TIMM22

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: Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial electron transport, NADH to ubiquinone (GO:0006120)6.43538366
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.38610392
3energy coupled proton transport, down electrochemical gradient (GO:0015985)6.18422437
4ATP synthesis coupled proton transport (GO:0015986)6.18422437
5neuron cell-cell adhesion (GO:0007158)5.70353788
6proteasome assembly (GO:0043248)5.51465697
7regulation of protein kinase A signaling (GO:0010738)5.32946288
8respiratory electron transport chain (GO:0022904)5.29213725
9electron transport chain (GO:0022900)5.17124214
10regulation of mitochondrial translation (GO:0070129)4.86438045
11vocalization behavior (GO:0071625)4.74708091
12transcription elongation from RNA polymerase III promoter (GO:0006385)4.41170296
13termination of RNA polymerase III transcription (GO:0006386)4.41170296
14mitochondrial respiratory chain complex assembly (GO:0033108)4.37868573
15negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.33695421
16dopamine biosynthetic process (GO:0042416)4.27082863
17neurotransmitter catabolic process (GO:0042135)4.21470839
18mating behavior (GO:0007617)4.19138591
19dopamine transport (GO:0015872)4.13976198
20gamma-aminobutyric acid signaling pathway (GO:0007214)4.12222488
21regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.08239960
22positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.05243538
23neuron recognition (GO:0008038)4.05117328
24positive regulation of synapse assembly (GO:0051965)4.04703576
25respiratory chain complex IV assembly (GO:0008535)4.04594811
26negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.01503351
27negative regulation of ligase activity (GO:0051352)4.01503351
28chaperone-mediated protein transport (GO:0072321)4.00863066
29synaptic vesicle exocytosis (GO:0016079)3.89549924
30anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.87762970
31protein localization to synapse (GO:0035418)3.84481707
32regulation of cellular amino acid metabolic process (GO:0006521)3.83641661
33* protein targeting to mitochondrion (GO:0006626)3.80733410
34regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.80173152
35cytochrome complex assembly (GO:0017004)3.79449231
36* establishment of protein localization to mitochondrial membrane (GO:0090151)3.79220389
37tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.74183855
38RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.74183855
39rRNA modification (GO:0000154)3.73475437
40transmission of nerve impulse (GO:0019226)3.71081781
41presynaptic membrane assembly (GO:0097105)3.69549261
42protein deneddylation (GO:0000338)3.66198895
43cullin deneddylation (GO:0010388)3.65453705
44GTP biosynthetic process (GO:0006183)3.63164298
45response to histamine (GO:0034776)3.62753612
46opioid receptor signaling pathway (GO:0038003)3.60941622
47establishment of integrated proviral latency (GO:0075713)3.60067601
48DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.59857856
49pseudouridine synthesis (GO:0001522)3.59643637
50* establishment of protein localization to mitochondrion (GO:0072655)3.59337932
51* protein localization to mitochondrion (GO:0070585)3.59158946
52chromatin remodeling at centromere (GO:0031055)3.57088138
53signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.55454887
54signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.55454887
55signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.55454887
56regulation of short-term neuronal synaptic plasticity (GO:0048172)3.55004070
57ATP hydrolysis coupled proton transport (GO:0015991)3.53743481
58energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.53743481
59positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.53219386
60CENP-A containing nucleosome assembly (GO:0034080)3.52529478
61DNA damage response, detection of DNA damage (GO:0042769)3.51787977
62intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.51039603
63signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.51039603
64nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.48963507
65ionotropic glutamate receptor signaling pathway (GO:0035235)3.48746798
66exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.48004429
67hydrogen ion transmembrane transport (GO:1902600)3.46813469
68presynaptic membrane organization (GO:0097090)3.45597214
69regulation of glutamate receptor signaling pathway (GO:1900449)3.44638486
70regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.44139484
71neuron remodeling (GO:0016322)3.43994232
72neurotransmitter biosynthetic process (GO:0042136)3.43981623
73glutamate receptor signaling pathway (GO:0007215)3.43939844
74signal transduction involved in DNA integrity checkpoint (GO:0072401)3.43281351
75signal transduction involved in DNA damage checkpoint (GO:0072422)3.43281351
76signal transduction involved in cell cycle checkpoint (GO:0072395)3.39525226
77regulation of glutamate secretion (GO:0014048)3.38657686
78positive regulation of ligase activity (GO:0051351)3.37913041
79protein localization to cilium (GO:0061512)3.34168023
80central nervous system myelination (GO:0022010)3.30546967
81axon ensheathment in central nervous system (GO:0032291)3.30546967
82synaptic transmission, dopaminergic (GO:0001963)3.30295693
83spliceosomal snRNP assembly (GO:0000387)3.29864004
84purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.28761386
85protein-cofactor linkage (GO:0018065)3.27807705
86negative regulation of synaptic transmission, GABAergic (GO:0032229)3.26565231
87metallo-sulfur cluster assembly (GO:0031163)3.25619748
88iron-sulfur cluster assembly (GO:0016226)3.25619748
89positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.25387658
90DNA deamination (GO:0045006)3.25295880
91regulation of ubiquitin-protein transferase activity (GO:0051438)3.23672052
92protein neddylation (GO:0045116)3.23437157
93neuronal action potential propagation (GO:0019227)3.23023988
94regulation of catecholamine metabolic process (GO:0042069)3.22789260
95regulation of dopamine metabolic process (GO:0042053)3.22789260
96ATP biosynthetic process (GO:0006754)3.18931983
97purine nucleoside triphosphate biosynthetic process (GO:0009145)3.17676455
98neurotransmitter transport (GO:0006836)3.16153871
99neurotransmitter secretion (GO:0007269)3.16052416
100proton transport (GO:0015992)3.15475365
101regulation of vesicle fusion (GO:0031338)3.15183554
102peptidyl-histidine modification (GO:0018202)3.13449624
103neuron-neuron synaptic transmission (GO:0007270)3.12249007
104regulation of ligase activity (GO:0051340)3.12035222
105catecholamine transport (GO:0051937)3.11766592
106establishment of viral latency (GO:0019043)3.11346413
107hydrogen transport (GO:0006818)3.11085088
108water-soluble vitamin biosynthetic process (GO:0042364)3.10243063
109cilium movement (GO:0003341)3.08749926
110ribosome assembly (GO:0042255)3.06966896
111cellular component biogenesis (GO:0044085)3.06779181
112female mating behavior (GO:0060180)3.05720331
113regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.04904350
114telomere maintenance via semi-conservative replication (GO:0032201)3.04477241
115oxygen transport (GO:0015671)3.03247299
116protein K6-linked ubiquitination (GO:0085020)3.02970707
117rRNA methylation (GO:0031167)3.02668852
118rRNA processing (GO:0006364)3.01708448
119maturation of 5.8S rRNA (GO:0000460)3.01538260
120regulation of neurotransmitter levels (GO:0001505)3.00154006
121detection of calcium ion (GO:0005513)3.00061733
122protein complex biogenesis (GO:0070271)2.99765002
123UTP biosynthetic process (GO:0006228)2.98741543
124negative regulation of neurotransmitter transport (GO:0051589)2.98233741
125pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.97822226
126synapse assembly (GO:0007416)2.97637447
127DNA strand elongation involved in DNA replication (GO:0006271)2.97554632
128base-excision repair, AP site formation (GO:0006285)2.97054955
129tRNA processing (GO:0008033)2.96675496
1307-methylguanosine mRNA capping (GO:0006370)2.95063173
131positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.94744530
132long-chain fatty acid biosynthetic process (GO:0042759)2.93898695
133axonal fasciculation (GO:0007413)2.93725767
134histone exchange (GO:0043486)2.90120259
135DNA catabolic process, exonucleolytic (GO:0000738)2.89738720
136glutamate secretion (GO:0014047)2.89696894
137regulation of synapse assembly (GO:0051963)2.89587730
138tRNA metabolic process (GO:0006399)2.87819881
139rRNA metabolic process (GO:0016072)2.87722704
140DNA strand elongation (GO:0022616)2.87479888
141deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.87217772
142transcription-coupled nucleotide-excision repair (GO:0006283)2.86445739
143RNA capping (GO:0036260)2.86374718
1447-methylguanosine RNA capping (GO:0009452)2.86374718
145negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.85640514
146positive regulation of synaptic transmission, GABAergic (GO:0032230)2.84882109
147regulation of cellular amine metabolic process (GO:0033238)2.84702311
148translation (GO:0006412)2.84213945
149oxidative phosphorylation (GO:0006119)2.83295873
150righting reflex (GO:0060013)2.83250145
151regulation of excitatory postsynaptic membrane potential (GO:0060079)2.82463627
152postsynaptic membrane organization (GO:0001941)2.81664348
153* intracellular protein transmembrane import (GO:0044743)2.81353517
154startle response (GO:0001964)2.80853398
155positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.80553753
156* mitochondrial transport (GO:0006839)2.80540937
157regulation of postsynaptic membrane potential (GO:0060078)2.80394197
158mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.79804149
159mitochondrial respiratory chain complex I assembly (GO:0032981)2.79804149
160NADH dehydrogenase complex assembly (GO:0010257)2.79804149
161negative regulation of protein ubiquitination (GO:0031397)2.79247287
162DNA replication checkpoint (GO:0000076)2.78994872
163dendritic spine morphogenesis (GO:0060997)2.78918237
164multi-organism reproductive behavior (GO:0044705)2.78302140
165response to cocaine (GO:0042220)2.78251005
166locomotory exploration behavior (GO:0035641)2.77734399
167substantia nigra development (GO:0021762)2.76927680
168mitochondrial RNA metabolic process (GO:0000959)2.76775265
169ribosomal small subunit assembly (GO:0000028)2.76485180
170neuropeptide signaling pathway (GO:0007218)2.76404459
171L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.76368074
172positive regulation of cell cycle arrest (GO:0071158)2.75921688
173DNA double-strand break processing (GO:0000729)2.75909808
174synaptic transmission, glutamatergic (GO:0035249)2.74683023
175transferrin transport (GO:0033572)2.74394058
176ribonucleoside triphosphate biosynthetic process (GO:0009201)2.74296528
177amino acid activation (GO:0043038)2.73861931
178tRNA aminoacylation (GO:0043039)2.73861931
179striatum development (GO:0021756)2.73696431
180mitotic metaphase plate congression (GO:0007080)2.73560196
181DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.72682574
182exploration behavior (GO:0035640)2.70666946
183positive regulation of amino acid transport (GO:0051957)2.70555554
184synaptic transmission, cholinergic (GO:0007271)2.70282133
185reproductive behavior (GO:0019098)2.69053801
186neurotransmitter metabolic process (GO:0042133)2.68786431
187long-term memory (GO:0007616)2.65865317

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.07904615
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.39343170
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.58263032
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.19660596
5* JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.17989134
6* ETS1_20019798_ChIP-Seq_JURKAT_Human3.65890227
7MYC_18555785_ChIP-Seq_MESCs_Mouse3.60131416
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.56622362
9E2F7_22180533_ChIP-Seq_HELA_Human3.52768876
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.47769875
11TAF15_26573619_Chip-Seq_HEK293_Human3.47668696
12GBX2_23144817_ChIP-Seq_PC3_Human3.25361922
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.23483745
14* HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.23225763
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.01220434
16JARID2_20064375_ChIP-Seq_MESCs_Mouse2.92066514
17SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.91108144
18EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.81037006
19* THAP11_20581084_ChIP-Seq_MESCs_Mouse2.80849400
20* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.78739166
21SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.77663331
22* VDR_23849224_ChIP-Seq_CD4+_Human2.60883249
23E2F4_17652178_ChIP-ChIP_JURKAT_Human2.58815851
24MYC_19030024_ChIP-ChIP_MESCs_Mouse2.56527395
25SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.55737861
26CTBP2_25329375_ChIP-Seq_LNCAP_Human2.52110199
27TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.51056405
28CTBP1_25329375_ChIP-Seq_LNCAP_Human2.49064679
29SRF_21415370_ChIP-Seq_HL-1_Mouse2.48783091
30EZH2_27304074_Chip-Seq_ESCs_Mouse2.47332085
31SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43825386
32GABP_19822575_ChIP-Seq_HepG2_Human2.43395969
33DCP1A_22483619_ChIP-Seq_HELA_Human2.42345931
34SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.38099043
35BMI1_23680149_ChIP-Seq_NPCS_Mouse2.37931112
36* FOXP3_21729870_ChIP-Seq_TREG_Human2.37174505
37ZFP57_27257070_Chip-Seq_ESCs_Mouse2.34918665
38RNF2_18974828_ChIP-Seq_MESCs_Mouse2.34123030
39EZH2_18974828_ChIP-Seq_MESCs_Mouse2.34123030
40PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.34098023
41ELK1_19687146_ChIP-ChIP_HELA_Human2.34038473
42FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.32418478
43ELF1_17652178_ChIP-ChIP_JURKAT_Human2.31415023
44JARID2_20075857_ChIP-Seq_MESCs_Mouse2.31134355
45EED_16625203_ChIP-ChIP_MESCs_Mouse2.30103278
46* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.27339488
47XRN2_22483619_ChIP-Seq_HELA_Human2.16731878
48REST_21632747_ChIP-Seq_MESCs_Mouse2.15744786
49* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.13418069
50GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.13373129
51MYC_19079543_ChIP-ChIP_MESCs_Mouse2.12876582
52NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.12618536
53TTF2_22483619_ChIP-Seq_HELA_Human2.11003618
54PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.09827174
55MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.09045686
56AR_21572438_ChIP-Seq_LNCaP_Human2.08741873
57SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.06601165
58NELFA_20434984_ChIP-Seq_ESCs_Mouse2.05936787
59VDR_22108803_ChIP-Seq_LS180_Human2.05494976
60IGF1R_20145208_ChIP-Seq_DFB_Human2.01617579
61FUS_26573619_Chip-Seq_HEK293_Human2.01481235
62CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.99280948
63SUZ12_27294783_Chip-Seq_ESCs_Mouse1.94052121
64* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.93384325
65* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.93208582
66P300_19829295_ChIP-Seq_ESCs_Human1.88887488
67MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.87758277
68CBX2_27304074_Chip-Seq_ESCs_Mouse1.87020544
69YY1_21170310_ChIP-Seq_MESCs_Mouse1.86961377
70EZH2_27294783_Chip-Seq_ESCs_Mouse1.86663841
71IKZF1_21737484_ChIP-ChIP_HCT116_Human1.81191275
72POU3F2_20337985_ChIP-ChIP_501MEL_Human1.78539971
73ZNF274_21170338_ChIP-Seq_K562_Hela1.78405452
74MYC_18940864_ChIP-ChIP_HL60_Human1.75459989
75FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.74533874
76* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.74464648
77RNF2_27304074_Chip-Seq_ESCs_Mouse1.74140265
78GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73860918
79POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.72266380
80SMAD4_21799915_ChIP-Seq_A2780_Human1.69442444
81HOXB4_20404135_ChIP-ChIP_EML_Mouse1.66870605
82REST_18959480_ChIP-ChIP_MESCs_Mouse1.65536490
83MYCN_18555785_ChIP-Seq_MESCs_Mouse1.65426183
84RNF2_27304074_Chip-Seq_NSC_Mouse1.65174617
85TOP2B_26459242_ChIP-Seq_MCF-7_Human1.64529149
86ER_23166858_ChIP-Seq_MCF-7_Human1.63721243
87SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.59386074
88SMAD3_21741376_ChIP-Seq_EPCs_Human1.58080209
89UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.55434930
90PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.53489425
91PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.53210624
92CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.52721509
93CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.51681712
94MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.51196768
95PIAS1_25552417_ChIP-Seq_VCAP_Human1.48971943
96SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.47362458
97OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46188123
98PADI4_21655091_ChIP-ChIP_MCF-7_Human1.46048715
99E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.44952865
100POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.43238517
101STAT6_21828071_ChIP-Seq_BEAS2B_Human1.40591415
102RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.37072179
103* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.36947346
104KDM5A_27292631_Chip-Seq_BREAST_Human1.35863067
105NOTCH1_21737748_ChIP-Seq_TLL_Human1.35665479
106FOXM1_23109430_ChIP-Seq_U2OS_Human1.34517452
107DROSHA_22980978_ChIP-Seq_HELA_Human1.33921612
108DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.31759200
109NR3C1_23031785_ChIP-Seq_PC12_Mouse1.31172079
110CDX2_19796622_ChIP-Seq_MESCs_Mouse1.30172567
111SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29648865
112ZFX_18555785_ChIP-Seq_MESCs_Mouse1.28951319
113* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.25413429
114RARB_27405468_Chip-Seq_BRAIN_Mouse1.23835819
115EWS_26573619_Chip-Seq_HEK293_Human1.23393092
116CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.22795895
117TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21769295
118JUN_21703547_ChIP-Seq_K562_Human1.21612818
119ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.21587855
120POU5F1_16153702_ChIP-ChIP_HESCs_Human1.20979761
121FLI1_27457419_Chip-Seq_LIVER_Mouse1.19857871
122FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.18266893
123* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.17955376
124AR_25329375_ChIP-Seq_VCAP_Human1.17544828
125* RUNX2_22187159_ChIP-Seq_PCA_Human1.17405901
126ELK1_22589737_ChIP-Seq_MCF10A_Human1.16335906
127PCGF2_27294783_Chip-Seq_ESCs_Mouse1.16271607
128E2F1_21310950_ChIP-Seq_MCF-7_Human1.15680642
129TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14016973
130ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.13231061
131BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.12492530
132HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.10999004
133ERG_21242973_ChIP-ChIP_JURKAT_Human1.09337272
134CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.09278379
135BCAT_22108803_ChIP-Seq_LS180_Human1.08862856
136NANOG_18555785_ChIP-Seq_MESCs_Mouse1.07784323
137NANOG_18555785_Chip-Seq_ESCs_Mouse1.06842698
138TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.06824256
139SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.06542689
140CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.06086881
141SOX2_16153702_ChIP-ChIP_HESCs_Human1.05267112
142SOX2_21211035_ChIP-Seq_LN229_Gbm1.04253828
143MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04030014
144SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.03838535
145NANOG_16153702_ChIP-ChIP_HESCs_Human1.03756127
146* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.03621880
147* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02472300
148TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02123606
149PRDM14_20953172_ChIP-Seq_ESCs_Human1.02036812
150FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.01539408
151EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01192845
152AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.00609248
153MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00545061
154GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.00379505
155TP53_18474530_ChIP-ChIP_U2OS_Human0.99718348
156RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.99505846
157SOX2_18555785_ChIP-Seq_MESCs_Mouse0.99484868
158TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98787939
159RING1B_27294783_Chip-Seq_ESCs_Mouse0.98757247
160* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.98111167
161NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96688514
162STAT3_23295773_ChIP-Seq_U87_Human0.96630786
163KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.96107206
164KDM2B_26808549_Chip-Seq_REH_Human0.95950534
165STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93325196
166TCF4_23295773_ChIP-Seq_U87_Human0.93154662
167TAL1_26923725_Chip-Seq_HPCs_Mouse0.92959190
168DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.92132448
169SUZ12_27294783_Chip-Seq_NPCs_Mouse0.91914088
170* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.91086469
171TFEB_21752829_ChIP-Seq_HELA_Human0.90594077
172* CIITA_25753668_ChIP-Seq_RAJI_Human0.89905503
173* HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.89788386
174CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.88139247
175* CTCF_18555785_ChIP-Seq_MESCs_Mouse0.87745870
176KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.86516466
177* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.84793499
178* FOXP1_21924763_ChIP-Seq_HESCs_Human0.84554902
179KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.82612484
180CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.80667617
181AR_21909140_ChIP-Seq_LNCAP_Human0.80358518
182SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.80344505
183IRF1_19129219_ChIP-ChIP_H3396_Human0.79190599
184CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.77235994
185* SOX17_20123909_ChIP-Seq_XEN_Mouse0.76597614
186TBX5_21415370_ChIP-Seq_HL-1_Mouse0.76210986
187CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.75337548
188FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72732507
189TP53_22573176_ChIP-Seq_HFKS_Human0.72532762

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.24321589
2MP0008058_abnormal_DNA_repair3.83232630
3MP0006276_abnormal_autonomic_nervous3.64612073
4MP0003693_abnormal_embryo_hatching3.37162370
5MP0001529_abnormal_vocalization3.35072701
6MP0003635_abnormal_synaptic_transmissio3.22121613
7MP0009046_muscle_twitch3.11585997
8MP0002064_seizures3.07070716
9MP0009745_abnormal_behavioral_response3.05122741
10MP0004859_abnormal_synaptic_plasticity3.01758468
11MP0004957_abnormal_blastocyst_morpholog2.99449720
12MP0001968_abnormal_touch/_nociception2.96855015
13MP0003122_maternal_imprinting2.90418543
14MP0001440_abnormal_grooming_behavior2.90191715
15MP0001905_abnormal_dopamine_level2.85155750
16MP0010094_abnormal_chromosome_stability2.84179350
17MP0003111_abnormal_nucleus_morphology2.76997600
18MP0002572_abnormal_emotion/affect_behav2.65813968
19MP0008877_abnormal_DNA_methylation2.61367878
20MP0002736_abnormal_nociception_after2.61324750
21MP0003786_premature_aging2.61304017
22MP0006036_abnormal_mitochondrial_physio2.59038254
23MP0004142_abnormal_muscle_tone2.53415160
24MP0008932_abnormal_embryonic_tissue2.52734166
25MP0002272_abnormal_nervous_system2.46061827
26MP0005423_abnormal_somatic_nervous2.44367327
27MP0002063_abnormal_learning/memory/cond2.44166682
28MP0003718_maternal_effect2.43500756
29MP0001501_abnormal_sleep_pattern2.32812151
30MP0003186_abnormal_redox_activity2.32558826
31MP0003077_abnormal_cell_cycle2.32366529
32MP0003806_abnormal_nucleotide_metabolis2.27335009
33MP0002735_abnormal_chemical_nociception2.22117551
34MP0001486_abnormal_startle_reflex2.18502349
35MP0008007_abnormal_cellular_replicative2.16453642
36MP0002734_abnormal_mechanical_nocicepti2.15549332
37MP0002067_abnormal_sensory_capabilities2.07463902
38MP0008789_abnormal_olfactory_epithelium2.00480482
39MP0009379_abnormal_foot_pigmentation1.99486537
40MP0002733_abnormal_thermal_nociception1.99085163
41MP0004270_analgesia1.98482145
42MP0001970_abnormal_pain_threshold1.89833280
43MP0002837_dystrophic_cardiac_calcinosis1.85856789
44MP0004924_abnormal_behavior1.85437813
45MP0005386_behavior/neurological_phenoty1.85437813
46MP0000372_irregular_coat_pigmentation1.84524379
47MP0002938_white_spotting1.83449047
48MP0005645_abnormal_hypothalamus_physiol1.82942763
49MP0001188_hyperpigmentation1.79336770
50MP0000778_abnormal_nervous_system1.77819108
51MP0002184_abnormal_innervation1.72545105
52MP0010030_abnormal_orbit_morphology1.71571875
53MP0002557_abnormal_social/conspecific_i1.70755866
54MP0002822_catalepsy1.62018888
55MP0005379_endocrine/exocrine_gland_phen1.59395428
56MP0005409_darkened_coat_color1.56813767
57MP0005084_abnormal_gallbladder_morpholo1.56588147
58MP0000358_abnormal_cell_content/1.55671401
59MP0001984_abnormal_olfaction1.52293378
60MP0006072_abnormal_retinal_apoptosis1.49796766
61MP0005646_abnormal_pituitary_gland1.46206526
62MP0003329_amyloid_beta_deposits1.44878773
63MP0004742_abnormal_vestibular_system1.41279377
64MP0002160_abnormal_reproductive_system1.39524270
65MP0002332_abnormal_exercise_endurance1.37366438
66MP0003011_delayed_dark_adaptation1.37267325
67MP0001293_anophthalmia1.36576377
68MP0004133_heterotaxia1.35010666
69MP0003941_abnormal_skin_development1.32618098
70MP0005551_abnormal_eye_electrophysiolog1.32228615
71MP0000751_myopathy1.30441689
72MP0002066_abnormal_motor_capabilities/c1.30244814
73MP0003567_abnormal_fetal_cardiomyocyte1.28721221
74MP0002210_abnormal_sex_determination1.27346383
75MP0009697_abnormal_copulation1.25969885
76MP0002876_abnormal_thyroid_physiology1.22493044
77MP0001502_abnormal_circadian_rhythm1.20611610
78MP0002882_abnormal_neuron_morphology1.19231537
79MP0002163_abnormal_gland_morphology1.18628772
80MP0010386_abnormal_urinary_bladder1.14032554
81MP0002234_abnormal_pharynx_morphology1.13619525
82MP0000749_muscle_degeneration1.13141058
83MP0008872_abnormal_physiological_respon1.12131066
84MP0002653_abnormal_ependyma_morphology1.12080383
85MP0003121_genomic_imprinting1.11817654
86MP0000955_abnormal_spinal_cord1.11462655
87MP0003136_yellow_coat_color1.11226007
88MP0006035_abnormal_mitochondrial_morpho1.11115064
89MP0000631_abnormal_neuroendocrine_gland1.10821015
90MP0008569_lethality_at_weaning1.05718264
91MP0001764_abnormal_homeostasis1.05535608
92MP0000920_abnormal_myelination1.02353942
93MP0003646_muscle_fatigue1.02154032
94MP0003937_abnormal_limbs/digits/tail_de1.01666788
95MP0002638_abnormal_pupillary_reflex1.01418012
96MP0004145_abnormal_muscle_electrophysio1.00634436
97MP0005535_abnormal_body_temperature1.00178833
98MP0008995_early_reproductive_senescence1.00046509
99MP0001730_embryonic_growth_arrest0.98152578
100MP0001929_abnormal_gametogenesis0.96793997
101MP0002102_abnormal_ear_morphology0.96735784
102MP0000049_abnormal_middle_ear0.96170430
103MP0002229_neurodegeneration0.95126926
104MP0000350_abnormal_cell_proliferation0.94409357
105MP0003690_abnormal_glial_cell0.94149406
106MP0001963_abnormal_hearing_physiology0.94107160
107MP0003634_abnormal_glial_cell0.93755495
108MP0001145_abnormal_male_reproductive0.93355956
109MP0002752_abnormal_somatic_nervous0.92808385
110MP0000653_abnormal_sex_gland0.92371596
111MP0005171_absent_coat_pigmentation0.92053112
112MP0002233_abnormal_nose_morphology0.91899962
113MP0006292_abnormal_olfactory_placode0.91869918
114MP0003119_abnormal_digestive_system0.91003226
115MP0001727_abnormal_embryo_implantation0.90570701
116MP0002152_abnormal_brain_morphology0.90294927
117MP0001664_abnormal_digestion0.89496627
118MP0005075_abnormal_melanosome_morpholog0.89349013
119MP0003315_abnormal_perineum_morphology0.87572189
120MP0005389_reproductive_system_phenotype0.84705173
121MP0005332_abnormal_amino_acid0.84547139
122MP0003123_paternal_imprinting0.84232029
123MP0003137_abnormal_impulse_conducting0.83640862
124MP0002909_abnormal_adrenal_gland0.82364763
125MP0002090_abnormal_vision0.81898018
126MP0004811_abnormal_neuron_physiology0.81668696
127MP0004085_abnormal_heartbeat0.80555158
128MP0001697_abnormal_embryo_size0.78755353
129MP0001485_abnormal_pinna_reflex0.78737987
130MP0005623_abnormal_meninges_morphology0.78329223
131MP0002069_abnormal_eating/drinking_beha0.77695253
132MP0002085_abnormal_embryonic_tissue0.74042844
133MP0005253_abnormal_eye_physiology0.73965651
134MP0000747_muscle_weakness0.73419585
135MP0000026_abnormal_inner_ear0.72810413
136MP0000516_abnormal_urinary_system0.72037408
137MP0005367_renal/urinary_system_phenotyp0.72037408
138MP0000313_abnormal_cell_death0.71672729
139MP0002080_prenatal_lethality0.71654237
140MP0000013_abnormal_adipose_tissue0.71395744
141MP0002084_abnormal_developmental_patter0.70842349
142MP0000538_abnormal_urinary_bladder0.70750292
143MP0003698_abnormal_male_reproductive0.70593144
144MP0004272_abnormal_basement_membrane0.70292910
145MP0003633_abnormal_nervous_system0.69363911
146MP0004215_abnormal_myocardial_fiber0.68815526
147MP0001943_abnormal_respiration0.68453323
148MP0003283_abnormal_digestive_organ0.68288321
149MP0005410_abnormal_fertilization0.68251454
150MP0004147_increased_porphyrin_level0.68151314
151MP0008057_abnormal_DNA_replication0.66768589
152MP0002751_abnormal_autonomic_nervous0.66539513
153MP0003631_nervous_system_phenotype0.66257554
154MP0005380_embryogenesis_phenotype0.65433411
155MP0001672_abnormal_embryogenesis/_devel0.65433411
156MP0005394_taste/olfaction_phenotype0.64840625
157MP0005499_abnormal_olfactory_system0.64840625
158MP0001119_abnormal_female_reproductive0.64223467
159MP0001286_abnormal_eye_development0.63332015
160MP0003787_abnormal_imprinting0.60377308
161MP0003879_abnormal_hair_cell0.60033934
162MP0004858_abnormal_nervous_system0.59027471
163MP0008874_decreased_physiological_sensi0.58878538

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.46248767
2Acute necrotizing encephalopathy (HP:0006965)5.40319845
3Progressive macrocephaly (HP:0004481)4.74841805
4Abnormal mitochondria in muscle tissue (HP:0008316)4.72903435
5Mitochondrial inheritance (HP:0001427)4.55162787
6Limb dystonia (HP:0002451)4.48788473
7Abnormal ciliary motility (HP:0012262)4.29322598
8Acute encephalopathy (HP:0006846)4.21872980
9Focal seizures (HP:0007359)3.89787037
10Atonic seizures (HP:0010819)3.87533208
11Visual hallucinations (HP:0002367)3.86850495
12Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.72694883
13Decreased activity of mitochondrial respiratory chain (HP:0008972)3.72694883
14Increased CSF lactate (HP:0002490)3.65056072
15Abnormal respiratory motile cilium physiology (HP:0012261)3.59801538
163-Methylglutaconic aciduria (HP:0003535)3.57597921
17Absence seizures (HP:0002121)3.48906106
18Abnormal respiratory epithelium morphology (HP:0012253)3.40190813
19Abnormal respiratory motile cilium morphology (HP:0005938)3.40190813
20Increased serum lactate (HP:0002151)3.37458746
21Dialeptic seizures (HP:0011146)3.36242438
22Hepatocellular necrosis (HP:0001404)3.33722503
23Myokymia (HP:0002411)3.32523789
24Microvesicular hepatic steatosis (HP:0001414)3.32296214
25Increased hepatocellular lipid droplets (HP:0006565)3.31533779
26Optic disc pallor (HP:0000543)3.28307238
27Gait imbalance (HP:0002141)3.12774352
28Generalized tonic-clonic seizures (HP:0002069)2.95607870
29Increased serum pyruvate (HP:0003542)2.95383357
30Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.94943763
31Abnormality of glycolysis (HP:0004366)2.94404475
32Neurofibrillary tangles (HP:0002185)2.93013183
33Type I transferrin isoform profile (HP:0003642)2.91812358
34Abnormal number of erythroid precursors (HP:0012131)2.91151398
35Epileptic encephalopathy (HP:0200134)2.90694426
36Abnormality of the labia minora (HP:0012880)2.90569935
37Dynein arm defect of respiratory motile cilia (HP:0012255)2.89744131
38Absent/shortened dynein arms (HP:0200106)2.89744131
39Medial flaring of the eyebrow (HP:0010747)2.87324118
40Polyphagia (HP:0002591)2.86253976
41Congenital primary aphakia (HP:0007707)2.86026634
42Rhinitis (HP:0012384)2.85108265
43Renal Fanconi syndrome (HP:0001994)2.84194415
44Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.79762640
45Cerebral edema (HP:0002181)2.79139141
46Pheochromocytoma (HP:0002666)2.77733581
47Leukodystrophy (HP:0002415)2.77255545
48Cerebral inclusion bodies (HP:0100314)2.72532259
49Increased muscle lipid content (HP:0009058)2.69992762
50Methylmalonic aciduria (HP:0012120)2.69874592
51Progressive cerebellar ataxia (HP:0002073)2.69869401
52Methylmalonic acidemia (HP:0002912)2.69817104
53Lipid accumulation in hepatocytes (HP:0006561)2.69230613
54Neuroendocrine neoplasm (HP:0100634)2.68639642
55Vaginal atresia (HP:0000148)2.68260854
56Genital tract atresia (HP:0001827)2.67785533
57Broad-based gait (HP:0002136)2.66437313
58Febrile seizures (HP:0002373)2.63485865
59Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.60710245
60Progressive inability to walk (HP:0002505)2.59081912
61Abnormality of cells of the erythroid lineage (HP:0012130)2.57636654
62Exercise intolerance (HP:0003546)2.55827861
63Nephrogenic diabetes insipidus (HP:0009806)2.55642165
64Abnormal protein glycosylation (HP:0012346)2.52842992
65Abnormal glycosylation (HP:0012345)2.52842992
66Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.52842992
67Abnormal protein N-linked glycosylation (HP:0012347)2.52842992
68Abnormal pupillary function (HP:0007686)2.51993776
69Hyperventilation (HP:0002883)2.48619552
70Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.47490963
71Exertional dyspnea (HP:0002875)2.46050891
72Anxiety (HP:0000739)2.42663992
73Sensory axonal neuropathy (HP:0003390)2.42254154
74Degeneration of the lateral corticospinal tracts (HP:0002314)2.41828869
75Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.41828869
76Respiratory failure (HP:0002878)2.41090325
77Hypothermia (HP:0002045)2.40479155
78Colon cancer (HP:0003003)2.39193667
79Hyperglycinemia (HP:0002154)2.37813306
80Abnormality of midbrain morphology (HP:0002418)2.35782223
81Molar tooth sign on MRI (HP:0002419)2.35782223
82Infantile muscular hypotonia (HP:0008947)2.35564640
83Amblyopia (HP:0000646)2.31925117
84Cerebral hemorrhage (HP:0001342)2.31291942
85Lethargy (HP:0001254)2.30262301
86Failure to thrive in infancy (HP:0001531)2.28905064
87Respiratory difficulties (HP:0002880)2.28541775
88Hyperthyroidism (HP:0000836)2.27150839
89Esotropia (HP:0000565)2.26805204
90Abnormal hair whorl (HP:0010721)2.26462827
91Mutism (HP:0002300)2.23686847
92Abnormal eating behavior (HP:0100738)2.21395639
93Hepatic necrosis (HP:0002605)2.21131736
94Retinal dysplasia (HP:0007973)2.21070848
95X-linked dominant inheritance (HP:0001423)2.20329570
96Delusions (HP:0000746)2.20139686
97Abnormality of alanine metabolism (HP:0010916)2.17978456
98Hyperalaninemia (HP:0003348)2.17978456
99Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.17978456
100Increased intramyocellular lipid droplets (HP:0012240)2.15604807
101Abnormality of methionine metabolism (HP:0010901)2.15249223
102Abnormality of the corticospinal tract (HP:0002492)2.14564991
103CNS demyelination (HP:0007305)2.12290231
104Cerebral hypomyelination (HP:0006808)2.09425084
105Amniotic constriction ring (HP:0009775)2.06428778
106Abnormality of placental membranes (HP:0011409)2.06428778
107Dysmetria (HP:0001310)2.05963844
108Humeroradial synostosis (HP:0003041)2.04760949
109Synostosis involving the elbow (HP:0003938)2.04760949
110Pancreatic cysts (HP:0001737)2.02923908
111Pancreatic fibrosis (HP:0100732)2.01376378
112Neoplasm of the adrenal gland (HP:0100631)2.00690201
113Psychosis (HP:0000709)2.00532987
114Delayed gross motor development (HP:0002194)2.00367767
115Specific learning disability (HP:0001328)2.00185801
116Abnormality of serum amino acid levels (HP:0003112)1.98629787
117Abnormality of the anterior horn cell (HP:0006802)1.97816584
118Degeneration of anterior horn cells (HP:0002398)1.97816584
119Lactic acidosis (HP:0003128)1.96402200
120Multiple enchondromatosis (HP:0005701)1.95693870
121Reticulocytopenia (HP:0001896)1.95233982
122Poor coordination (HP:0002370)1.94713289
123Hypoplastic pelvis (HP:0008839)1.90646131
124Excessive salivation (HP:0003781)1.89652750
125Drooling (HP:0002307)1.89652750
126Hypoventilation (HP:0002791)1.89395556
127Aplasia/Hypoplasia of the sacrum (HP:0008517)1.89250329
128Generalized myoclonic seizures (HP:0002123)1.87310390
129Meckel diverticulum (HP:0002245)1.85492442
130Testicular atrophy (HP:0000029)1.85262446
131Poor suck (HP:0002033)1.85004328
132Abnormality of renal resorption (HP:0011038)1.84630725
133Peripheral hypomyelination (HP:0007182)1.83295071
134Hemiparesis (HP:0001269)1.83117742
135Progressive external ophthalmoplegia (HP:0000590)1.82242561
136Adrenal hypoplasia (HP:0000835)1.82033493
137Supranuclear gaze palsy (HP:0000605)1.82019760
138Macrocytic anemia (HP:0001972)1.81960324
139Opisthotonus (HP:0002179)1.81910027
140Progressive microcephaly (HP:0000253)1.80808044
141True hermaphroditism (HP:0010459)1.80578231
142Abnormality of binocular vision (HP:0011514)1.80302071
143Diplopia (HP:0000651)1.80302071
144Type 2 muscle fiber atrophy (HP:0003554)1.78639182
145Aplastic anemia (HP:0001915)1.78611166
146Parakeratosis (HP:0001036)1.77900111
147Aplasia/Hypoplasia of the lens (HP:0008063)1.77187024
148Truncal ataxia (HP:0002078)1.76940556
149Emotional lability (HP:0000712)1.76522723
150Sclerocornea (HP:0000647)1.76356010
151Gaze-evoked nystagmus (HP:0000640)1.76165064
152Abnormality of urine glucose concentration (HP:0011016)1.74745413
153Glycosuria (HP:0003076)1.74745413
154Pancytopenia (HP:0001876)1.74097984
155Microretrognathia (HP:0000308)1.74025844
156Abnormality of aspartate family amino acid metabolism (HP:0010899)1.73933504
157Abnormality of the ileum (HP:0001549)1.73645199
158Sparse eyelashes (HP:0000653)1.72507130
159CNS hypomyelination (HP:0003429)1.70853671
160Birth length less than 3rd percentile (HP:0003561)1.70842787
161Muscle fiber atrophy (HP:0100295)1.70718100
162Reduced antithrombin III activity (HP:0001976)1.68900864
163Hyperphosphaturia (HP:0003109)1.68295035
164Aplasia/hypoplasia of the uterus (HP:0008684)1.67019091
165Abnormality of dicarboxylic acid metabolism (HP:0010995)1.66912467
166Dicarboxylic aciduria (HP:0003215)1.66912467
167Prominent metopic ridge (HP:0005487)1.66572497
168Absent thumb (HP:0009777)1.64933366
169Aplasia/Hypoplasia involving the musculature (HP:0001460)1.64285037
170Nephronophthisis (HP:0000090)1.63475902
171Horseshoe kidney (HP:0000085)1.62747262
172Pendular nystagmus (HP:0012043)1.60873481
173Blindness (HP:0000618)1.60030218

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PNCK5.50567327
2MAP3K124.37246848
3BUB14.19241242
4VRK24.08399185
5MAP4K23.80778359
6NTRK33.23616087
7CASK3.23322907
8ZAK2.75288581
9SRPK12.72358174
10BCKDK2.54186660
11ARAF2.28176993
12MAPKAPK52.24577588
13TNIK2.13576401
14TRIM282.13158069
15MAP3K92.09416672
16NME22.05349615
17NEK12.03082055
18NME12.02484610
19MARK12.00301170
20PLK31.95393106
21EIF2AK11.94577926
22NUAK11.90730763
23EPHA41.87821783
24MAP3K41.86545259
25TTK1.82514102
26PLK41.79089971
27STK391.78775064
28MINK11.76108268
29CDC71.75655991
30OXSR11.75154556
31FES1.73172668
32MAP2K71.72427751
33GRK51.66156269
34EIF2AK31.64773272
35CDK191.64284245
36MAP2K41.64156185
37NTRK21.63028713
38NTRK11.56710997
39GRK71.56425308
40ADRBK21.56080557
41RIPK41.54721570
42IRAK21.50841233
43TAF11.46009743
44PDK21.43606938
45MAPK151.42429841
46MAPK131.40490237
47DYRK21.36517267
48BCR1.32017610
49CAMK2A1.31353927
50PLK11.29534404
51CAMK2B1.28793139
52LIMK11.28237465
53FGR1.27681767
54BRSK21.27309156
55PIM21.25029002
56PLK21.24757132
57WEE11.23896327
58MYLK1.23106276
59BRSK11.22395822
60KDR1.16034838
61UHMK11.15421499
62CSNK1G31.15116730
63CSNK1G21.14132742
64LATS21.10923517
65MST41.10197891
66CAMK2D1.05032454
67CDK51.00492884
68SIK20.99717169
69TSSK60.98994833
70BMPR20.95520023
71PRKCG0.94593930
72STK160.94218530
73MAP3K130.94046313
74CCNB10.92501455
75TESK10.92132917
76CHEK20.91463546
77AURKA0.90451986
78PKN10.88460901
79MKNK10.88107940
80BMPR1B0.86473731
81ADRBK10.86393912
82CAMK2G0.85894477
83TESK20.85157257
84AURKB0.85086440
85PRKCE0.84830228
86PAK30.82509598
87WNK40.82439116
88GRK10.82010384
89CDK140.81306807
90ATR0.79979456
91CDK80.79135875
92TLK10.78441298
93MKNK20.77033364
94ROCK20.74524102
95CAMK1G0.74305670
96CDK180.72403202
97CDK150.72367591
98STK40.70439570
99CSNK1G10.69170295
100BRAF0.67702319
101MOS0.66752214
102CDK11A0.65113061
103PTK2B0.63642402
104TIE10.61798546
105MUSK0.61348894
106MAP3K110.60691985
107PHKG20.60497911
108PHKG10.60497911
109IRAK10.59628987
110PRKCI0.58867939
111CSNK2A10.58357523
112PRKACA0.57977433
113GRK60.57801561
114FER0.57711343
115PINK10.57562533
116KSR20.57523549
117CSNK2A20.56339571
118NEK60.55319573
119PAK60.52435221
120DAPK30.52104703
121DYRK1A0.51880957
122PBK0.51373904
123TNK20.51355340
124WNK30.51242858
125VRK10.49682569
126CSNK1E0.48662391
127EIF2AK20.48587295
128ATM0.48323387
129CHEK10.46473213
130CDK70.43102704
131MAP3K50.41807530
132PRKG10.40274582
133KSR10.40133389
134INSRR0.37893082
135FYN0.37117807
136PRPF4B0.36949951
137STK100.36682914
138STK110.36654405
139ABL20.36383162
140CDK30.36126511
141CAMKK20.35963613
142ERBB40.35834033
143CSNK1A1L0.35661256
144PAK10.35071426
145PRKCQ0.34971397
146RAF10.34609428
147ILK0.34457770
148DAPK10.34076351
149CAMK10.33070613
150PRKCA0.32162094
151STK30.31805561
152DYRK30.31324836
153MAP2K10.30057821
154CSNK1A10.27928885
155OBSCN0.27523803
156RPS6KA50.27071717
157AKT30.26985857

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001905.44284949
2Parkinsons disease_Homo sapiens_hsa050124.49938563
3Nicotine addiction_Homo sapiens_hsa050333.88321739
4Alzheimers disease_Homo sapiens_hsa050103.65129838
5Huntingtons disease_Homo sapiens_hsa050163.21351744
6Collecting duct acid secretion_Homo sapiens_hsa049662.87674626
7DNA replication_Homo sapiens_hsa030302.81622976
8Cardiac muscle contraction_Homo sapiens_hsa042602.75614950
9Mismatch repair_Homo sapiens_hsa034302.70482744
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.64885459
11Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.58407075
12Synaptic vesicle cycle_Homo sapiens_hsa047212.51243953
13Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.38401802
14GABAergic synapse_Homo sapiens_hsa047272.38053952
15Base excision repair_Homo sapiens_hsa034102.34448801
16Sulfur relay system_Homo sapiens_hsa041222.21478522
17Homologous recombination_Homo sapiens_hsa034402.16988836
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.05661921
19Pyrimidine metabolism_Homo sapiens_hsa002402.01177241
20Amphetamine addiction_Homo sapiens_hsa050311.98962736
21Serotonergic synapse_Homo sapiens_hsa047261.97124789
22Morphine addiction_Homo sapiens_hsa050321.96077517
23Taste transduction_Homo sapiens_hsa047421.92030120
24Glutamatergic synapse_Homo sapiens_hsa047241.80497710
25Nucleotide excision repair_Homo sapiens_hsa034201.78474844
26Spliceosome_Homo sapiens_hsa030401.77590124
27Cocaine addiction_Homo sapiens_hsa050301.74378911
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.71872923
29Basal transcription factors_Homo sapiens_hsa030221.70739636
30Vibrio cholerae infection_Homo sapiens_hsa051101.68308970
31Long-term potentiation_Homo sapiens_hsa047201.66904142
32Fanconi anemia pathway_Homo sapiens_hsa034601.66020215
33Long-term depression_Homo sapiens_hsa047301.65468241
34Non-homologous end-joining_Homo sapiens_hsa034501.62519491
35Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.62363120
36RNA transport_Homo sapiens_hsa030131.61657326
37Circadian entrainment_Homo sapiens_hsa047131.60458706
38Dopaminergic synapse_Homo sapiens_hsa047281.59212374
39Renin secretion_Homo sapiens_hsa049241.57758637
40RNA degradation_Homo sapiens_hsa030181.53900748
41One carbon pool by folate_Homo sapiens_hsa006701.53781723
42Olfactory transduction_Homo sapiens_hsa047401.52517311
43Folate biosynthesis_Homo sapiens_hsa007901.49807211
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.43169272
45Protein export_Homo sapiens_hsa030601.40458100
46Cysteine and methionine metabolism_Homo sapiens_hsa002701.39001660
47Phototransduction_Homo sapiens_hsa047441.38567548
48Salivary secretion_Homo sapiens_hsa049701.37371236
49Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.36421418
50Purine metabolism_Homo sapiens_hsa002301.35599467
51Propanoate metabolism_Homo sapiens_hsa006401.31879046
52Calcium signaling pathway_Homo sapiens_hsa040201.30917757
53Steroid biosynthesis_Homo sapiens_hsa001001.20286487
542-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.19232015
55Gastric acid secretion_Homo sapiens_hsa049711.17442736
56Selenocompound metabolism_Homo sapiens_hsa004501.17373801
57Cholinergic synapse_Homo sapiens_hsa047251.16601364
58Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.14753136
59Cell cycle_Homo sapiens_hsa041101.12915840
60Glutathione metabolism_Homo sapiens_hsa004801.11236582
61Ribosome_Homo sapiens_hsa030101.09798847
62Insulin secretion_Homo sapiens_hsa049111.07783629
63Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07451144
64Oxytocin signaling pathway_Homo sapiens_hsa049211.06678457
65Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.06111242
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.05524492
67Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.05509966
68Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.00362437
69Rheumatoid arthritis_Homo sapiens_hsa053230.98349369
70Vitamin B6 metabolism_Homo sapiens_hsa007500.94732033
71Gap junction_Homo sapiens_hsa045400.93758562
72Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.88092600
73Fatty acid elongation_Homo sapiens_hsa000620.87844232
74Biosynthesis of amino acids_Homo sapiens_hsa012300.87125632
75Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.86339659
76Carbon metabolism_Homo sapiens_hsa012000.85610881
77Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.85164865
78Axon guidance_Homo sapiens_hsa043600.82552515
79Aldosterone synthesis and secretion_Homo sapiens_hsa049250.81706541
80Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.79996016
81Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.79893531
82Peroxisome_Homo sapiens_hsa041460.77630201
83Proteasome_Homo sapiens_hsa030500.77268705
84GnRH signaling pathway_Homo sapiens_hsa049120.77219704
85Vascular smooth muscle contraction_Homo sapiens_hsa042700.76301669
86Ether lipid metabolism_Homo sapiens_hsa005650.71497267
87Estrogen signaling pathway_Homo sapiens_hsa049150.68696681
88Tyrosine metabolism_Homo sapiens_hsa003500.64616967
89Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.64499451
90Melanogenesis_Homo sapiens_hsa049160.64463875
91Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63233055
92Regulation of autophagy_Homo sapiens_hsa041400.62057576
93Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61738489
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.61632229
95African trypanosomiasis_Homo sapiens_hsa051430.61127124
96p53 signaling pathway_Homo sapiens_hsa041150.60668147
97N-Glycan biosynthesis_Homo sapiens_hsa005100.59086221
98Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.59054433
99Butanoate metabolism_Homo sapiens_hsa006500.58613756
100mRNA surveillance pathway_Homo sapiens_hsa030150.58214544
101Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.54519383
102Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.54173085
103Pancreatic secretion_Homo sapiens_hsa049720.52238788
104Alcoholism_Homo sapiens_hsa050340.51305052
105Fatty acid metabolism_Homo sapiens_hsa012120.51119060
106Arginine and proline metabolism_Homo sapiens_hsa003300.50657759
107cAMP signaling pathway_Homo sapiens_hsa040240.49154285
108cGMP-PKG signaling pathway_Homo sapiens_hsa040220.48840452
109Phagosome_Homo sapiens_hsa041450.48835415
110Dilated cardiomyopathy_Homo sapiens_hsa054140.46205588
111Prion diseases_Homo sapiens_hsa050200.45989762
112Maturity onset diabetes of the young_Homo sapiens_hsa049500.45415101
113Type I diabetes mellitus_Homo sapiens_hsa049400.45237404
114Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42482648
115Sulfur metabolism_Homo sapiens_hsa009200.42450999
116Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41596144
117Dorso-ventral axis formation_Homo sapiens_hsa043200.40999739
118Thyroid hormone synthesis_Homo sapiens_hsa049180.40391368
119Histidine metabolism_Homo sapiens_hsa003400.38706726
120Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.38667473
121Pentose phosphate pathway_Homo sapiens_hsa000300.38452284
122Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.38206866
123Metabolic pathways_Homo sapiens_hsa011000.38040488
124Pyruvate metabolism_Homo sapiens_hsa006200.37681392
125ErbB signaling pathway_Homo sapiens_hsa040120.36425841
126Phenylalanine metabolism_Homo sapiens_hsa003600.35216044
127Sphingolipid metabolism_Homo sapiens_hsa006000.34201337
128Oocyte meiosis_Homo sapiens_hsa041140.33673219
129Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.31990400
130Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.31861038
131Tryptophan metabolism_Homo sapiens_hsa003800.31685615
132Fatty acid degradation_Homo sapiens_hsa000710.30837078
133Epstein-Barr virus infection_Homo sapiens_hsa051690.30584740
134beta-Alanine metabolism_Homo sapiens_hsa004100.30520738
135Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.29991869
136Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.29743954
137Galactose metabolism_Homo sapiens_hsa000520.29559572
138Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.29464942
139Renal cell carcinoma_Homo sapiens_hsa052110.29038692
140MAPK signaling pathway_Homo sapiens_hsa040100.27634415
141Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.27466450
142Pentose and glucuronate interconversions_Homo sapiens_hsa000400.26926810
143Ras signaling pathway_Homo sapiens_hsa040140.26284974
144Glycerophospholipid metabolism_Homo sapiens_hsa005640.25134972
145Phospholipase D signaling pathway_Homo sapiens_hsa040720.24368189
146Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.24358479
147Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24007297
148Glioma_Homo sapiens_hsa052140.20997036
149Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.20977301
150RNA polymerase_Homo sapiens_hsa030200.20286843
151Drug metabolism - other enzymes_Homo sapiens_hsa009830.19059648
152Fructose and mannose metabolism_Homo sapiens_hsa000510.18093322
153Wnt signaling pathway_Homo sapiens_hsa043100.18006097
154Choline metabolism in cancer_Homo sapiens_hsa052310.16699317
155Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.16653388
156Ovarian steroidogenesis_Homo sapiens_hsa049130.16007162
157Phosphatidylinositol signaling system_Homo sapiens_hsa040700.15801533
158Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.13355673
159Vitamin digestion and absorption_Homo sapiens_hsa049770.13314197
160Basal cell carcinoma_Homo sapiens_hsa052170.12430807
161Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.11779924
162Sphingolipid signaling pathway_Homo sapiens_hsa040710.10184116
163TGF-beta signaling pathway_Homo sapiens_hsa043500.10015882
164Hippo signaling pathway_Homo sapiens_hsa043900.09849883
165Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.09547140
166Glucagon signaling pathway_Homo sapiens_hsa049220.08659417
167Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.08168835
168Linoleic acid metabolism_Homo sapiens_hsa005910.07784027

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