AAGAB

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: The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)5.89984980
2Golgi transport vesicle coating (GO:0048200)5.89984980
3nuclear pore complex assembly (GO:0051292)5.33459063
4nuclear pore organization (GO:0006999)4.82429094
5establishment of integrated proviral latency (GO:0075713)4.76470455
6DNA unwinding involved in DNA replication (GO:0006268)4.49125151
7ribosome assembly (GO:0042255)4.32022802
8DNA strand elongation involved in DNA replication (GO:0006271)4.23140559
9nucleobase-containing small molecule interconversion (GO:0015949)4.20884705
10DNA strand elongation (GO:0022616)4.12507073
11oxaloacetate metabolic process (GO:0006107)4.10407016
12pore complex assembly (GO:0046931)4.09906506
13formation of translation preinitiation complex (GO:0001731)4.05103383
14retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.01660076
15regulation of translational fidelity (GO:0006450)3.84327323
16telomere maintenance via semi-conservative replication (GO:0032201)3.80915513
17protein localization to chromosome, centromeric region (GO:0071459)3.77920641
18pyrimidine nucleobase catabolic process (GO:0006208)3.77465386
19mitotic chromosome condensation (GO:0007076)3.76768995
20signal peptide processing (GO:0006465)3.67449366
21mitotic metaphase plate congression (GO:0007080)3.65403759
22establishment of viral latency (GO:0019043)3.63267139
23mitotic sister chromatid segregation (GO:0000070)3.53725580
24protein localization to kinetochore (GO:0034501)3.51302239
25purine nucleobase biosynthetic process (GO:0009113)3.49890593
26regulation of translational termination (GO:0006449)3.47327760
27synaptic vesicle docking involved in exocytosis (GO:0016081)3.36856015
28NADH metabolic process (GO:0006734)3.35190647
29tRNA aminoacylation for protein translation (GO:0006418)3.34803650
30negative regulation of microtubule polymerization (GO:0031115)3.34415142
31sister chromatid segregation (GO:0000819)3.33180961
32negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.32918376
33regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.31892072
34response to misfolded protein (GO:0051788)3.28212045
35peptidyl-arginine omega-N-methylation (GO:0035247)3.27481627
36tricarboxylic acid metabolic process (GO:0072350)3.26732060
37tRNA aminoacylation (GO:0043039)3.25660715
38amino acid activation (GO:0043038)3.25660715
39ribosomal small subunit assembly (GO:0000028)3.25258296
40DNA replication checkpoint (GO:0000076)3.23298992
41anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.22392655
42telomere maintenance via recombination (GO:0000722)3.21916912
43nucleobase biosynthetic process (GO:0046112)3.21776234
44IMP biosynthetic process (GO:0006188)3.19621721
45regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.19338862
46IMP metabolic process (GO:0046040)3.17539818
47regulation of mitotic spindle organization (GO:0060236)3.16414550
48misfolded or incompletely synthesized protein catabolic process (GO:0006515)3.14615059
49antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.14591806
50antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.14591806
51DNA replication initiation (GO:0006270)3.14374881
52succinate metabolic process (GO:0006105)3.14130679
53negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.10981088
54negative regulation of ligase activity (GO:0051352)3.10981088
55maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.10471395
56positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.09681320
57mitotic nuclear envelope disassembly (GO:0007077)3.07748373
58mitotic recombination (GO:0006312)3.05792589
59nuclear envelope reassembly (GO:0031468)3.05763277
60mitotic nuclear envelope reassembly (GO:0007084)3.05763277
61N-glycan processing (GO:0006491)3.05105656
62valine metabolic process (GO:0006573)3.03367920
63tricarboxylic acid cycle (GO:0006099)3.02622187
64synaptic vesicle exocytosis (GO:0016079)3.02508879
65non-recombinational repair (GO:0000726)3.01950841
66double-strand break repair via nonhomologous end joining (GO:0006303)3.01950841
67maturation of SSU-rRNA (GO:0030490)2.98996339
68energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.98693376
69ATP hydrolysis coupled proton transport (GO:0015991)2.98693376
70alpha-linolenic acid metabolic process (GO:0036109)2.98642744
71ribosome biogenesis (GO:0042254)2.94952734
72metaphase plate congression (GO:0051310)2.93807256
73DNA ligation (GO:0006266)2.93255626
74deoxyribonucleotide biosynthetic process (GO:0009263)2.92593473
75nucleobase catabolic process (GO:0046113)2.92081991
76nuclear envelope disassembly (GO:0051081)2.91689511
77membrane disassembly (GO:0030397)2.91689511
78virion assembly (GO:0019068)2.89918851
79mitotic sister chromatid cohesion (GO:0007064)2.87951835
80mitochondrial fragmentation involved in apoptotic process (GO:0043653)2.87825304
81folic acid metabolic process (GO:0046655)2.87695870
82DNA topological change (GO:0006265)2.86721380
83regulation of synaptic vesicle exocytosis (GO:2000300)2.86244188
84response to pheromone (GO:0019236)2.85015454
85protein maturation by protein folding (GO:0022417)2.84774467
86peptidyl-arginine N-methylation (GO:0035246)2.84316862
87peptidyl-arginine methylation (GO:0018216)2.84316862
88protein complex localization (GO:0031503)2.83049385
89negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.82050611
90pentose-phosphate shunt (GO:0006098)2.81396934
91de novo protein folding (GO:0006458)2.77317733
92ribosomal large subunit biogenesis (GO:0042273)2.76995094
93positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.76456549
94regulation of cellular amino acid metabolic process (GO:0006521)2.76318033
95ribonucleoprotein complex biogenesis (GO:0022613)2.75573207
96vesicle coating (GO:0006901)2.75304384
97fucose catabolic process (GO:0019317)2.74005354
98L-fucose metabolic process (GO:0042354)2.74005354
99L-fucose catabolic process (GO:0042355)2.74005354
100mitochondrial fusion (GO:0008053)2.73896972
101disruption of cells of other organism involved in symbiotic interaction (GO:0051818)2.73733993
102killing of cells in other organism involved in symbiotic interaction (GO:0051883)2.73733993
103erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.72623083
104L-phenylalanine catabolic process (GO:0006559)2.72623083
105regulation of synaptic vesicle transport (GO:1902803)2.72321167
106DNA duplex unwinding (GO:0032508)2.71627625
107proteasome assembly (GO:0043248)2.71539034
108establishment of chromosome localization (GO:0051303)2.71238907
109protein deneddylation (GO:0000338)2.71175666
110NADPH regeneration (GO:0006740)2.70577999
111histone H2B ubiquitination (GO:0033523)2.70563793
112nucleotide-excision repair, DNA gap filling (GO:0006297)2.70258159
113positive regulation of ligase activity (GO:0051351)2.69776633
114signal transduction involved in DNA integrity checkpoint (GO:0072401)2.68500415
115signal transduction involved in DNA damage checkpoint (GO:0072422)2.68500415
116viral protein processing (GO:0019082)2.67268938
117intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.67212343
118signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.67212343
119inositol phosphate catabolic process (GO:0071545)2.66434080
120regulation of ubiquitin-protein transferase activity (GO:0051438)2.66143113
121cell cycle G1/S phase transition (GO:0044843)2.65178237
122G1/S transition of mitotic cell cycle (GO:0000082)2.65178237
123protein retention in ER lumen (GO:0006621)2.64854321
124regulation of spindle organization (GO:0090224)2.64736203
125de novo posttranslational protein folding (GO:0051084)2.64679505
126regulation of translational elongation (GO:0006448)2.64665923
127transferrin transport (GO:0033572)2.64312020
128regulation of centriole replication (GO:0046599)2.63510908
129regulation of mitochondrial translation (GO:0070129)2.62918858
130telomere maintenance via telomere lengthening (GO:0010833)2.62884395
131signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.62685510
132signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.62685510
133signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.62685510
134COPII vesicle coating (GO:0048208)2.61812977
135peroxisome fission (GO:0016559)2.61045515
136glutamate secretion (GO:0014047)2.61030552
137regulation of oxidative phosphorylation (GO:0002082)2.60728002
138activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.60034191
139regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.59757571
1402-oxoglutarate metabolic process (GO:0006103)2.58949678
141positive regulation of nuclease activity (GO:0032075)2.58214255
142L-phenylalanine metabolic process (GO:0006558)2.58157521
143erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.58157521
144cerebellar Purkinje cell layer development (GO:0021680)2.56051778
145cellular ketone body metabolic process (GO:0046950)2.54635722
146regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.54455926
147regulation of autophagic vacuole assembly (GO:2000785)2.54024599
148regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.51620241
149chaperone mediated protein folding requiring cofactor (GO:0051085)2.51562382
150pyrimidine nucleobase metabolic process (GO:0006206)2.49462888
151regulation of short-term neuronal synaptic plasticity (GO:0048172)2.49405205
152protein N-linked glycosylation via asparagine (GO:0018279)2.48942998
153peptidyl-asparagine modification (GO:0018196)2.48088327
154gonadal mesoderm development (GO:0007506)2.44413369
155intra-Golgi vesicle-mediated transport (GO:0006891)2.40950071
156necroptotic process (GO:0070266)2.39799983
157trivalent inorganic cation transport (GO:0072512)2.39495213
158ferric iron transport (GO:0015682)2.39495213
159folic acid-containing compound biosynthetic process (GO:0009396)2.39458704
160cellular response to interleukin-4 (GO:0071353)2.39453830
161beta-amyloid metabolic process (GO:0050435)2.39183571
162proline biosynthetic process (GO:0006561)2.38584878
163regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.38423230
164G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.38127351
165synaptic vesicle maturation (GO:0016188)2.36912658
166cullin deneddylation (GO:0010388)2.36645477
167galactose catabolic process (GO:0019388)2.34515246
168antigen processing and presentation of endogenous antigen (GO:0019883)2.32798925
169positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.32495071
170regulation of defense response to virus by virus (GO:0050690)2.30564969
171protein N-linked glycosylation (GO:0006487)2.29899927
172pyrimidine nucleoside monophosphate metabolic process (GO:0009129)2.28175627
173regulation of synapse structural plasticity (GO:0051823)2.27932602
174positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.27240567
175neurotransmitter-gated ion channel clustering (GO:0072578)2.26489705
176regulation of nuclease activity (GO:0032069)2.26257876
177pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)2.26006782
178UMP biosynthetic process (GO:0006222)2.26006782
179pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)2.26006782
180UMP metabolic process (GO:0046049)2.26006782
181phosphorylated carbohydrate dephosphorylation (GO:0046838)2.25693096
182inositol phosphate dephosphorylation (GO:0046855)2.25693096
183lysine metabolic process (GO:0006553)2.25001773
184lysine catabolic process (GO:0006554)2.25001773
185L-alpha-amino acid transmembrane transport (GO:1902475)2.24345442
186negative regulation of erythrocyte differentiation (GO:0045647)2.18933477
187cellular response to topologically incorrect protein (GO:0035967)2.15747368
188ER to Golgi vesicle-mediated transport (GO:0006888)2.15663027

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.91618379
2GATA1_22025678_ChIP-Seq_K562_Human3.73968647
3FOXM1_23109430_ChIP-Seq_U2OS_Human3.26258139
4E2F4_17652178_ChIP-ChIP_JURKAT_Human3.13232100
5FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.89623434
6ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.79529658
7MYC_19030024_ChIP-ChIP_MESCs_Mouse2.74731451
8AR_21909140_ChIP-Seq_LNCAP_Human2.72329639
9E2F7_22180533_ChIP-Seq_HELA_Human2.70966087
10PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.65607745
11MYC_19079543_ChIP-ChIP_MESCs_Mouse2.60811152
12FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.58870204
13MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.58321441
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.55752021
15RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.45265543
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.41024761
17SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.40758183
18HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.38558947
19MYC_22102868_ChIP-Seq_BL_Human2.35123680
20FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.28734668
21CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.27141326
22PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.26789757
23MYCN_18555785_ChIP-Seq_MESCs_Mouse2.22072523
24GABP_17652178_ChIP-ChIP_JURKAT_Human2.18799814
25CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.18675992
26KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.14228211
27MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.10904585
28CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.08541320
29ZNF263_19887448_ChIP-Seq_K562_Human2.05538954
30PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.05436781
31SCL_19346495_ChIP-Seq_HPC-7_Human2.04852060
32ELK1_19687146_ChIP-ChIP_HELA_Human2.04473364
33ETS1_20019798_ChIP-Seq_JURKAT_Human2.03175655
34CIITA_25753668_ChIP-Seq_RAJI_Human2.01095305
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.00032756
36KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.95814924
37TTF2_22483619_ChIP-Seq_HELA_Human1.95304708
38TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.94004227
39E2F1_21310950_ChIP-Seq_MCF-7_Human1.91523066
40YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.91232737
41VDR_21846776_ChIP-Seq_THP-1_Human1.90634530
42PADI4_21655091_ChIP-ChIP_MCF-7_Human1.82619210
43EST1_17652178_ChIP-ChIP_JURKAT_Human1.80916334
44* FOXP3_21729870_ChIP-Seq_TREG_Human1.80800998
45THAP11_20581084_ChIP-Seq_MESCs_Mouse1.80277813
46* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.77947213
47* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.77923128
48ELF1_17652178_ChIP-ChIP_JURKAT_Human1.73531369
49MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.72516604
50GABP_19822575_ChIP-Seq_HepG2_Human1.70071393
51PPARA_22158963_ChIP-Seq_LIVER_Mouse1.69075457
52TP63_17297297_ChIP-ChIP_HaCaT_Human1.68451583
53KDM5A_27292631_Chip-Seq_BREAST_Human1.67104787
54NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.66844235
55HOXB4_20404135_ChIP-ChIP_EML_Mouse1.64013025
56TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.63466064
57IRF8_22096565_ChIP-ChIP_GC-B_Human1.60982676
58DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.60421590
59KLF4_18555785_ChIP-Seq_MESCs_Mouse1.58169956
60ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.57544572
61ZFX_18555785_ChIP-Seq_MESCs_Mouse1.56894885
62DNAJC2_21179169_ChIP-ChIP_NT2_Human1.56630691
63FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.55371830
64SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.53942464
65MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.53761667
66* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.52311890
67E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.52231739
68MYC_18358816_ChIP-ChIP_MESCs_Mouse1.50446805
69RXR_22158963_ChIP-Seq_LIVER_Mouse1.50410358
70* VDR_23849224_ChIP-Seq_CD4+_Human1.48504535
71REST_18959480_ChIP-ChIP_MESCs_Mouse1.48304007
72CREB1_15753290_ChIP-ChIP_HEK293T_Human1.47797139
73NANOG_18555785_ChIP-Seq_MESCs_Mouse1.46811962
74MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.46756126
75LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.46651637
76CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.46121129
77SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.45992716
78TFEB_21752829_ChIP-Seq_HELA_Human1.45085085
79CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.41635650
80LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.40175120
81HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.40126200
82* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.39699809
83CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.34510948
84* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.34207355
85IGF1R_20145208_ChIP-Seq_DFB_Human1.33626446
86TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.32622613
87E2F1_18555785_ChIP-Seq_MESCs_Mouse1.32156571
88XRN2_22483619_ChIP-Seq_HELA_Human1.31388506
89SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.31094985
90* DCP1A_22483619_ChIP-Seq_HELA_Human1.30859223
91LXR_22292898_ChIP-Seq_THP-1_Human1.30476618
92EGR1_19374776_ChIP-ChIP_THP-1_Human1.30469861
93CHD1_26751641_Chip-Seq_LNCaP_Human1.29840586
94SPI1_23547873_ChIP-Seq_NB4_Human1.29706936
95NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.29192711
96NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.28911750
97FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.28664527
98RARB_27405468_Chip-Seq_BRAIN_Mouse1.27445343
99CLOCK_20551151_ChIP-Seq_293T_Human1.26875273
100CTCF_18555785_ChIP-Seq_MESCs_Mouse1.25016193
101CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.24165031
102HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.23428333
103MYC_18555785_ChIP-Seq_MESCs_Mouse1.20600288
104IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.20245609
105ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.18499721
106CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.17437929
107SOX17_20123909_ChIP-Seq_XEN_Mouse1.17277063
108ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.16391342
109SRF_21415370_ChIP-Seq_HL-1_Mouse1.15634656
110GATA1_19941827_ChIP-Seq_MEL_Mouse1.15167423
111MYB_21317192_ChIP-Seq_ERMYB_Mouse1.14977659
112TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14463555
113ESR1_15608294_ChIP-ChIP_MCF-7_Human1.12613760
114UTX_26944678_Chip-Seq_JUKART_Human1.12547566
115SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.12359183
116STAT3_1855785_ChIP-Seq_MESCs_Mouse1.11999102
117HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.11815677
118PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.11138942
119* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.11129451
120CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.11075787
121SPI1_23127762_ChIP-Seq_K562_Human1.10905199
122NELFA_20434984_ChIP-Seq_ESCs_Mouse1.10386608
123IRF8_21731497_ChIP-ChIP_J774_Mouse1.09743277
124RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09239827
125TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.08770938
126RBPJ_22232070_ChIP-Seq_NCS_Mouse1.07775089
127YY1_21170310_ChIP-Seq_MESCs_Mouse1.07476234
128POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.06224354
129RUNX1_22412390_ChIP-Seq_EML_Mouse1.05735689
130TBX5_21415370_ChIP-Seq_HL-1_Mouse1.05664273
131FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04088847
132REST_21632747_ChIP-Seq_MESCs_Mouse1.04003708
133TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03362063
134TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.03193918
135PU.1_20513432_ChIP-Seq_Bcells_Mouse1.02351587
136STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.01581998
137KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.00846505
138* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00535667
139ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.99891829
140SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99755447
141E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.99741585
142SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.99094902
143ELF5_23300383_ChIP-Seq_T47D_Human0.98504546
144EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.98353275
145* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.97410859
146E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.95722468
147TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.94992694
148POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.94897455
149NANOG_21062744_ChIP-ChIP_HESCs_Human0.94110987
150ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.93387007
151ELK1_22589737_ChIP-Seq_MCF10A_Human0.87797498
152ATF3_27146783_Chip-Seq_COLON_Human0.86795205

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003183_abnormal_peptide_metabolism4.27901529
2MP0004957_abnormal_blastocyst_morpholog4.24742829
3MP0003693_abnormal_embryo_hatching3.87684610
4MP0003111_abnormal_nucleus_morphology3.75070856
5MP0010094_abnormal_chromosome_stability3.64863794
6MP0002877_abnormal_melanocyte_morpholog3.49424745
7MP0003172_abnormal_lysosome_physiology3.33210046
8MP0004859_abnormal_synaptic_plasticity3.29500142
9MP0003077_abnormal_cell_cycle3.16512041
10MP0008932_abnormal_embryonic_tissue2.92798317
11MP0005058_abnormal_lysosome_morphology2.90673893
12MP0005365_abnormal_bile_salt2.76619880
13MP0003191_abnormal_cellular_cholesterol2.64904648
14MP0002139_abnormal_hepatobiliary_system2.64595868
15MP0008058_abnormal_DNA_repair2.58113933
16MP0010352_gastrointestinal_tract_polyps2.48601124
17MP0008007_abnormal_cellular_replicative2.39375420
18MP0008057_abnormal_DNA_replication2.34366966
19MP0009840_abnormal_foam_cell2.27403757
20MP0001730_embryonic_growth_arrest2.25155145
21MP0010234_abnormal_vibrissa_follicle2.16617485
22MP0009697_abnormal_copulation2.16233433
23MP0000350_abnormal_cell_proliferation2.02977634
24MP0003252_abnormal_bile_duct1.96047246
25MP0005360_urolithiasis1.94796680
26MP0005085_abnormal_gallbladder_physiolo1.93871701
27MP0008875_abnormal_xenobiotic_pharmacok1.90344307
28MP0003329_amyloid_beta_deposits1.88089928
29MP0003635_abnormal_synaptic_transmissio1.87833958
30MP0000537_abnormal_urethra_morphology1.87278716
31MP0010329_abnormal_lipoprotein_level1.85958453
32MP0004270_analgesia1.84115752
33MP0003221_abnormal_cardiomyocyte_apopto1.83216746
34MP0002909_abnormal_adrenal_gland1.80772503
35MP0001727_abnormal_embryo_implantation1.79698144
36MP0003786_premature_aging1.78606468
37MP0005220_abnormal_exocrine_pancreas1.75200387
38MP0003879_abnormal_hair_cell1.73076095
39MP0001672_abnormal_embryogenesis/_devel1.72746706
40MP0005380_embryogenesis_phenotype1.72746706
41MP0003705_abnormal_hypodermis_morpholog1.72217133
42MP0001661_extended_life_span1.71918512
43MP0001697_abnormal_embryo_size1.70863022
44MP0000604_amyloidosis1.70423926
45MP0003566_abnormal_cell_adhesion1.69367000
46MP0005501_abnormal_skin_physiology1.69138885
47MP0002080_prenatal_lethality1.66041076
48MP0003941_abnormal_skin_development1.64913257
49MP0003656_abnormal_erythrocyte_physiolo1.64239612
50MP0008260_abnormal_autophagy1.64156003
51MP0009672_abnormal_birth_weight1.62338143
52MP0005083_abnormal_biliary_tract1.61720106
53MP0002796_impaired_skin_barrier1.61226727
54MP0002063_abnormal_learning/memory/cond1.60365218
55MP0001666_abnormal_nutrient_absorption1.56877692
56MP0008877_abnormal_DNA_methylation1.56750297
57MP0003984_embryonic_growth_retardation1.54968917
58MP0002693_abnormal_pancreas_physiology1.53009741
59MP0003806_abnormal_nucleotide_metabolis1.51755031
60MP0005076_abnormal_cell_differentiation1.50789557
61MP0002090_abnormal_vision1.50164667
62MP0002084_abnormal_developmental_patter1.49806564
63MP0002088_abnormal_embryonic_growth/wei1.49676236
64MP0003195_calcinosis1.45447299
65MP0002396_abnormal_hematopoietic_system1.45401130
66MP0005464_abnormal_platelet_physiology1.43739158
67MP0002876_abnormal_thyroid_physiology1.42413709
68MP0000490_abnormal_crypts_of1.42202675
69MP0006054_spinal_hemorrhage1.42104909
70MP0002085_abnormal_embryonic_tissue1.40503763
71MP0004185_abnormal_adipocyte_glucose1.39127688
72MP0005623_abnormal_meninges_morphology1.37300603
73MP0000313_abnormal_cell_death1.35209846
74MP0010678_abnormal_skin_adnexa1.32331574
75MP0001944_abnormal_pancreas_morphology1.31052351
76MP0002837_dystrophic_cardiac_calcinosis1.30666331
77MP0002064_seizures1.30031430
78MP0002572_abnormal_emotion/affect_behav1.30003484
79MP0000013_abnormal_adipose_tissue1.29797959
80MP0005408_hypopigmentation1.27916163
81MP0009745_abnormal_behavioral_response1.27318357
82MP0006036_abnormal_mitochondrial_physio1.27075354
83MP0000579_abnormal_nail_morphology1.26517549
84MP0002009_preneoplasia1.25595839
85MP0003880_abnormal_central_pattern1.24585688
86MP0002078_abnormal_glucose_homeostasis1.23856441
87MP0001764_abnormal_homeostasis1.21310729
88MP0004782_abnormal_surfactant_physiolog1.21097559
89MP0002086_abnormal_extraembryonic_tissu1.20927602
90MP0004197_abnormal_fetal_growth/weight/1.20728696
91MP0005636_abnormal_mineral_homeostasis1.20431237
92MP0003868_abnormal_feces_composition1.20422860
93MP0005332_abnormal_amino_acid1.18623805
94MP0004043_abnormal_pH_regulation1.18328025
95MP0000358_abnormal_cell_content/1.17324123
96MP0004272_abnormal_basement_membrane1.17153451
97MP0001765_abnormal_ion_homeostasis1.16606029
98MP0002098_abnormal_vibrissa_morphology1.15447032
99MP0002736_abnormal_nociception_after1.14916136
100MP0006035_abnormal_mitochondrial_morpho1.14251697
101MP0003315_abnormal_perineum_morphology1.13868345
102MP0010307_abnormal_tumor_latency1.13716177
103MP0003718_maternal_effect1.12820732
104MP0002697_abnormal_eye_size1.11354196
105MP0002735_abnormal_chemical_nociception1.10868387
106MP0010386_abnormal_urinary_bladder1.10191029
107MP0005248_abnormal_Harderian_gland1.10166212
108MP0000377_abnormal_hair_follicle1.09679759
109MP0009643_abnormal_urine_homeostasis1.09533595
110MP0000609_abnormal_liver_physiology1.09127176
111MP0002118_abnormal_lipid_homeostasis1.08863183
112MP0005384_cellular_phenotype1.08618619
113MP0010030_abnormal_orbit_morphology1.07565225
114MP0001216_abnormal_epidermal_layer1.07512162
115MP0003763_abnormal_thymus_physiology1.07321382
116MP0004811_abnormal_neuron_physiology1.05797005
117MP0005621_abnormal_cell_physiology1.05730151
118MP0009703_decreased_birth_body1.04269714
119MP0008961_abnormal_basal_metabolism1.03157847
120MP0005319_abnormal_enzyme/_coenzyme1.01241065
121MP0003866_abnormal_defecation1.01040671
122MP0009053_abnormal_anal_canal1.00620131
123MP0000627_abnormal_mammary_gland1.00271659
124MP0001835_abnormal_antigen_presentation1.00131440
125MP0005671_abnormal_response_to0.98371698
126MP0001346_abnormal_lacrimal_gland0.98058528
127MP0001873_stomach_inflammation0.97953477
128MP0009780_abnormal_chondrocyte_physiolo0.97343058
129MP0005584_abnormal_enzyme/coenzyme_acti0.96669328
130MP0001968_abnormal_touch/_nociception0.96669157
131MP0001849_ear_inflammation0.96200405
132MP0003690_abnormal_glial_cell0.95758168
133MP0003075_altered_response_to0.95630216
134MP0002234_abnormal_pharynx_morphology0.95059543
135MP0002272_abnormal_nervous_system0.94521315
136MP0001529_abnormal_vocalization0.93637490
137MP0008469_abnormal_protein_level0.92877491
138MP0000647_abnormal_sebaceous_gland0.90505530
139MP0002060_abnormal_skin_morphology0.90250917
140MP0003186_abnormal_redox_activity0.89949616
141MP0000465_gastrointestinal_hemorrhage0.89195084
142MP0004947_skin_inflammation0.88849752
143MP0000689_abnormal_spleen_morphology0.88628728
144MP0001881_abnormal_mammary_gland0.88578942
145MP0000678_abnormal_parathyroid_gland0.88194091
146MP0005451_abnormal_body_composition0.87952259
147MP0003436_decreased_susceptibility_to0.87847084
148MP0002160_abnormal_reproductive_system0.87141793
149MP0002419_abnormal_innate_immunity0.86914086
150MP0000747_muscle_weakness0.86610419
151MP0002928_abnormal_bile_duct0.86567003
152MP0002398_abnormal_bone_marrow0.86396964
153MP0002269_muscular_atrophy0.86273270
154MP0004147_increased_porphyrin_level0.85547956
155MP0005535_abnormal_body_temperature0.85044619
156MP0002734_abnormal_mechanical_nocicepti0.84464876
157MP0009642_abnormal_blood_homeostasis0.84407541
158MP0004233_abnormal_muscle_weight0.83202132
159MP0002420_abnormal_adaptive_immunity0.83020514
160MP0003937_abnormal_limbs/digits/tail_de0.82416484
161MP0004264_abnormal_extraembryonic_tissu0.82145750
162MP0002111_abnormal_tail_morphology0.81929248
163MP0002092_abnormal_eye_morphology0.80712851
164MP0005187_abnormal_penis_morphology0.80451939
165MP0003953_abnormal_hormone_level0.80400712
166MP0005448_abnormal_energy_balance0.80399781
167MP0001819_abnormal_immune_cell0.80358843
168MP0002067_abnormal_sensory_capabilities0.80214860
169MP0002557_abnormal_social/conspecific_i0.80022076
170MP0003453_abnormal_keratinocyte_physiol0.79723599
171MP0002229_neurodegeneration0.78470459
172MP0008874_decreased_physiological_sensi0.78000013
173MP0001243_abnormal_dermal_layer0.76770320
174MP0000762_abnormal_tongue_morphology0.76715122
175MP0002722_abnormal_immune_system0.76283705
176MP0002733_abnormal_thermal_nociception0.75345023
177MP0001845_abnormal_inflammatory_respons0.75145908
178MP0000598_abnormal_liver_morphology0.74618986
179MP0006276_abnormal_autonomic_nervous0.73941501
180MP0002019_abnormal_tumor_incidence0.73420744
181MP0002429_abnormal_blood_cell0.72558080
182MP0010771_integument_phenotype0.70292314
183MP0002233_abnormal_nose_morphology0.69365125
184MP0000383_abnormal_hair_follicle0.68914799
185MP0001293_anophthalmia0.68643424
186MP0003123_paternal_imprinting0.68208550
187MP0000477_abnormal_intestine_morphology0.64961702
188MP0000427_abnormal_hair_cycle0.64903510
189MP0003385_abnormal_body_wall0.64589398

Predicted human phenotypes

RankGene SetZ-score
1Papilledema (HP:0001085)3.78204718
2Abnormality of glycolysis (HP:0004366)3.73416603
3Vacuolated lymphocytes (HP:0001922)3.64811662
4Increased serum pyruvate (HP:0003542)3.43225900
5Dysostosis multiplex (HP:0000943)3.35799345
6Insidious onset (HP:0003587)3.28648561
7Termporal pattern (HP:0011008)3.28648561
8Ketoacidosis (HP:0001993)3.22485645
9Selective tooth agenesis (HP:0001592)3.14279614
10Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.13846106
11Mucopolysacchariduria (HP:0008155)3.09788127
12Urinary glycosaminoglycan excretion (HP:0003541)3.09788127
13Increased cerebral lipofuscin (HP:0011813)3.04482658
14Abnormality of the anterior horn cell (HP:0006802)2.98436272
15Degeneration of anterior horn cells (HP:0002398)2.98436272
16Abnormality of glycolipid metabolism (HP:0010969)2.97609974
17Abnormality of liposaccharide metabolism (HP:0010968)2.97609974
18Abnormality of glycosphingolipid metabolism (HP:0004343)2.97609974
19Agnosia (HP:0010524)2.94237014
20Cortical dysplasia (HP:0002539)2.93582007
21Chromsome breakage (HP:0040012)2.93494639
22Abnormality of mucopolysaccharide metabolism (HP:0011020)2.91010391
23Abnormality of polysaccharide metabolism (HP:0011012)2.91010391
24Abnormality of glycosaminoglycan metabolism (HP:0004371)2.91010391
25Thrombocytosis (HP:0001894)2.87260890
26Ketosis (HP:0001946)2.87033098
27Chromosomal breakage induced by crosslinking agents (HP:0003221)2.86527113
28Visual hallucinations (HP:0002367)2.86308241
29Increased neuronal autofluorescent lipopigment (HP:0002074)2.79208734
30Abnormality of aromatic amino acid family metabolism (HP:0004338)2.75303212
31Progressive muscle weakness (HP:0003323)2.70933757
32Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.59286317
33Unilateral renal agenesis (HP:0000122)2.58001355
34Spastic diplegia (HP:0001264)2.54423404
35Neuroendocrine neoplasm (HP:0100634)2.51020842
36J-shaped sella turcica (HP:0002680)2.50678670
37Multiple enchondromatosis (HP:0005701)2.47370770
38Generalized aminoaciduria (HP:0002909)2.46709228
39Large eyes (HP:0001090)2.45634106
40Type I transferrin isoform profile (HP:0003642)2.43146860
41Asymmetry of the thorax (HP:0001555)2.42821653
42Pheochromocytoma (HP:0002666)2.41579843
43Conjugated hyperbilirubinemia (HP:0002908)2.39395131
44Overlapping toe (HP:0001845)2.37014792
45Abnormality of the lower motor neuron (HP:0002366)2.36832953
46Aplastic anemia (HP:0001915)2.32614739
47Abnormality of the distal phalanges of the toes (HP:0010182)2.32140993
48IgM deficiency (HP:0002850)2.31402623
49Hypokinesia (HP:0002375)2.30323702
50Deviation of the thumb (HP:0009603)2.30099732
51Microvesicular hepatic steatosis (HP:0001414)2.29585670
52Microglossia (HP:0000171)2.29520179
53Progressive neurologic deterioration (HP:0002344)2.27997907
54Cutaneous melanoma (HP:0012056)2.27499251
55Abnormality of the umbilical cord (HP:0010881)2.24396615
56Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.22324509
57Decreased activity of mitochondrial respiratory chain (HP:0008972)2.22324509
58Proximal placement of thumb (HP:0009623)2.22170054
59Increased nuchal translucency (HP:0010880)2.21735390
60Epileptiform EEG discharges (HP:0011182)2.20934699
61Birth length less than 3rd percentile (HP:0003561)2.20699272
62Ankyloglossia (HP:0010296)2.20136049
63Deep philtrum (HP:0002002)2.19552584
64Septate vagina (HP:0001153)2.17930144
65Sparse eyelashes (HP:0000653)2.17719177
66Rough bone trabeculation (HP:0100670)2.17108285
67Orthostatic hypotension (HP:0001278)2.16567146
68EEG with generalized epileptiform discharges (HP:0011198)2.13570231
69Abnormality of oral frenula (HP:0000190)2.12690446
70Abnormal protein glycosylation (HP:0012346)2.12133419
71Abnormal glycosylation (HP:0012345)2.12133419
72Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.12133419
73Abnormal protein N-linked glycosylation (HP:0012347)2.12133419
74Abnormal gallbladder physiology (HP:0012438)2.11669932
75Cholecystitis (HP:0001082)2.11669932
76Abnormalities of placenta or umbilical cord (HP:0001194)2.11115825
77Abnormality of the motor neurons (HP:0002450)2.10976732
78Abnormal neuron morphology (HP:0012757)2.10976732
79Trismus (HP:0000211)2.07893216
80Abnormality of methionine metabolism (HP:0010901)2.07728828
81Amyotrophic lateral sclerosis (HP:0007354)2.07663169
82Short middle phalanx of the 5th finger (HP:0004220)2.07635294
83Hypsarrhythmia (HP:0002521)2.07532004
84Epileptic encephalopathy (HP:0200134)2.06626361
85Micronodular cirrhosis (HP:0001413)2.06530139
86Fasciculations (HP:0002380)2.06090678
87Abnormal platelet function (HP:0011869)2.04488179
88Impaired platelet aggregation (HP:0003540)2.04488179
89* Late onset (HP:0003584)2.03137731
90Glomerulonephritis (HP:0000099)2.02374247
91Limb hypertonia (HP:0002509)2.01953740
92Increased hepatocellular lipid droplets (HP:0006565)2.01440804
93Hepatic necrosis (HP:0002605)2.01172181
94Gout (HP:0001997)2.00906783
95Hepatocellular necrosis (HP:0001404)2.00237395
96Disinhibition (HP:0000734)2.00115290
97Short nail (HP:0001799)1.98332900
98Upper motor neuron abnormality (HP:0002127)1.98151935
99Progressive external ophthalmoplegia (HP:0000590)1.97242445
100Hypoglycemic coma (HP:0001325)1.95772820
101Increased intramyocellular lipid droplets (HP:0012240)1.95408112
102Abnormality of monocarboxylic acid metabolism (HP:0010996)1.94813946
103Proximal tubulopathy (HP:0000114)1.94469417
104Macrocytic anemia (HP:0001972)1.93634168
105Hyperbilirubinemia (HP:0002904)1.93521133
106Death in childhood (HP:0003819)1.93392598
107Abnormality of the intrinsic pathway (HP:0010989)1.92411560
108Poor suck (HP:0002033)1.91439323
109Abnormality of the fetal cardiovascular system (HP:0010948)1.91213350
110Abnormal umbilical cord blood vessels (HP:0011403)1.91213350
111Single umbilical artery (HP:0001195)1.91213350
112Insomnia (HP:0100785)1.88615331
113Missing ribs (HP:0000921)1.87449519
114Abnormal eating behavior (HP:0100738)1.87434214
115Retinal atrophy (HP:0001105)1.86721555
116Shoulder girdle muscle weakness (HP:0003547)1.86041936
117Polyphagia (HP:0002591)1.84503221
118Muscular hypotonia of the trunk (HP:0008936)1.84206010
119Neoplasm of the adrenal gland (HP:0100631)1.84070920
120Postnatal microcephaly (HP:0005484)1.82431900
121Posterior subcapsular cataract (HP:0007787)1.81789258
122Abnormality of nail color (HP:0100643)1.81722166
123Conjunctival hamartoma (HP:0100780)1.81210954
124Aplasia/Hypoplasia of the sacrum (HP:0008517)1.80208123
125Abnormality of the common coagulation pathway (HP:0010990)1.79573564
126Ridged nail (HP:0001807)1.79469978
127Abnormality of cells of the erythroid lineage (HP:0012130)1.78480859
128Abnormality of the pancreatic islet cells (HP:0006476)1.78435949
129Abnormality of endocrine pancreas physiology (HP:0012093)1.78435949
130Secondary amenorrhea (HP:0000869)1.78347173
131Elevated erythrocyte sedimentation rate (HP:0003565)1.78157177
132Ragged-red muscle fibers (HP:0003200)1.77723063
133Breech presentation (HP:0001623)1.77485340
134Hypoparathyroidism (HP:0000829)1.77424309
135Atonic seizures (HP:0010819)1.77257858
136Absence seizures (HP:0002121)1.76969785
137Tinnitus (HP:0000360)1.76615975
138Death in infancy (HP:0001522)1.76116456
139Akinesia (HP:0002304)1.74948605
140Lipid accumulation in hepatocytes (HP:0006561)1.74824446
141Testicular atrophy (HP:0000029)1.74336042
142Agitation (HP:0000713)1.73919471
143Pelvic girdle muscle weakness (HP:0003749)1.73784320
144Gonadotropin excess (HP:0000837)1.73408504
145Cerebral palsy (HP:0100021)1.73277813
146High anterior hairline (HP:0009890)1.73188354
147Hyperacusis (HP:0010780)1.71906430
14811 pairs of ribs (HP:0000878)1.71454899
149Squamous cell carcinoma (HP:0002860)1.70864730
150Recurrent bacterial skin infections (HP:0005406)1.70607705
151Abnormal mitochondria in muscle tissue (HP:0008316)1.68983141
152Thyroid carcinoma (HP:0002890)1.68941823
153Hyperlipoproteinemia (HP:0010980)1.68888300
154Neoplasm of the peripheral nervous system (HP:0100007)1.68106612
155Reticulocytosis (HP:0001923)1.67981840
156Abnormality of the tricuspid valve (HP:0001702)1.67849362
157Abnormality of fatty-acid metabolism (HP:0004359)1.67720089
158Amniotic constriction ring (HP:0009775)1.67603058
159Abnormality of placental membranes (HP:0011409)1.67603058
160Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.66907642
161Pili torti (HP:0003777)1.66763475
162Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.66569780
163Abnormality of the preputium (HP:0100587)1.66516640
164Cortical visual impairment (HP:0100704)1.66361571
165Generalized tonic-clonic seizures (HP:0002069)1.66053380
166Abnormal trabecular bone morphology (HP:0100671)1.65516792
167Papillary thyroid carcinoma (HP:0002895)1.65132612
168Cardiomegaly (HP:0001640)1.63507277
169Abnormality of chromosome stability (HP:0003220)1.63361477
170Irritability (HP:0000737)1.63062038
171Abnormality of reticulocytes (HP:0004312)1.62954947
172Severe visual impairment (HP:0001141)1.62767848
173Facial cleft (HP:0002006)1.62226433
174Atrophy/Degeneration involving motor neurons (HP:0007373)1.61992109
175Upper limb muscle weakness (HP:0003484)1.61720926
176Hypoplasia of the pons (HP:0012110)1.61496176
177Progressive microcephaly (HP:0000253)1.61307770
178Apathy (HP:0000741)1.60622609
179Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.59555572
180Protuberant abdomen (HP:0001538)1.59553063
181Megaloblastic anemia (HP:0001889)1.59056089
182Myelodysplasia (HP:0002863)1.58469213
183Severe short stature (HP:0003510)1.58268408
184Lower limb hyperreflexia (HP:0002395)1.58003042
185Autoamputation (HP:0001218)1.57445971
186Delayed CNS myelination (HP:0002188)1.57318210
187Hypobetalipoproteinemia (HP:0003563)1.57002208
188Pancytopenia (HP:0001876)1.56801733
189Overriding aorta (HP:0002623)1.56394799
190Lactic acidosis (HP:0003128)1.56228660
191Depression (HP:0000716)1.56223450
192Progressive hearing impairment (HP:0001730)1.56108934
193Diminished motivation (HP:0000745)1.56004595
194Craniofacial dystonia (HP:0012179)1.55889453

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK13.91811084
2BUB13.48417093
3PBK3.14291637
4TTK2.93993302
5CAMKK22.80043361
6MAP3K92.67084606
7FLT32.48437158
8SCYL22.48183663
9NEK12.36886436
10NTRK32.36612300
11PKN22.34511577
12CCNB12.23881386
13ERN12.13166340
14BCKDK2.08719258
15TAOK32.08713883
16NME22.07848192
17DAPK12.07741038
18KIT2.06927774
19EEF2K2.02500968
20MINK12.00849283
21EPHA22.00651855
22MST1R2.00634427
23DAPK21.97938419
24MARK11.97204356
25IRAK31.83942297
26BCR1.82013704
27RPS6KA41.80908197
28MAP3K121.80387294
29PASK1.77809212
30CDK191.70031592
31MST41.68996993
32PRPF4B1.63074669
33CAMKK11.55115584
34ACVR1B1.54454518
35BTK1.48249061
36TSSK61.48196018
37SYK1.45979273
38LATS21.43632815
39WEE11.41818481
40SMG11.39196995
41MAP2K31.38945550
42ITK1.38808965
43TGFBR11.37295311
44TGFBR21.29480326
45TEC1.27955954
46CDK121.25889162
47TRIM281.24829337
48MET1.23345983
49CSF1R1.19435329
50VRK21.18360485
51PLK31.16675520
52MAP3K131.16527965
53KSR21.15738011
54CDK71.15267073
55FES1.14460133
56CLK11.12767827
57MAPKAPK31.10458184
58ZAP701.10304417
59AURKB1.08785043
60EIF2AK31.08767333
61PLK11.07588943
62ARAF1.05250961
63PDK31.04021233
64PDK41.04021233
65ALK1.03692870
66MAPK131.03531780
67GRK61.01958891
68MAP2K70.99914686
69CDK90.99897000
70ATR0.97139759
71MAP2K40.96473418
72CHEK20.95346456
73BRSK10.92394938
74CDC70.87823947
75ERBB30.84388027
76PIK3CG0.83881111
77EPHA40.83836242
78ILK0.83073202
79KSR10.83001973
80CHEK10.82918019
81RPS6KA20.80895253
82SRPK10.80702242
83CDK50.77659268
84TYK20.75923481
85MKNK10.75696287
86TRIB30.75334514
87MAP4K10.74737845
88JAK20.74521472
89CDK180.74147484
90CDK80.74080968
91GRK50.74063004
92LIMK10.74059034
93BRAF0.73228224
94MOS0.71643272
95MAP3K80.71410269
96MAP3K40.71232881
97PDK10.70876226
98STK160.70788622
99CDK150.69259146
100BRSK20.67945724
101INSRR0.67088557
102CSNK1G30.67033828
103LATS10.66906780
104RPS6KB10.66280842
105PDK20.65709377
106ERBB40.64902991
107AKT20.63194830
108SGK20.62949896
109CDK11A0.62800287
110UHMK10.62492862
111PLK40.61141535
112NME10.60820909
113TESK10.60502370
114TESK20.60435354
115CSNK1A1L0.60390896
116CDK60.57644218
117MAP2K60.57593991
118ICK0.57346608
119CDK140.55714849
120NEK60.55599131
121MAP3K10.54345287
122MAP3K60.54056029
123PAK40.53066636
124FGFR40.52827400
125RET0.52682518
126AURKA0.52086236
127EIF2AK20.52000308
128MAPK40.51457207
129PDGFRA0.50947820
130ATM0.50251952
131CASK0.48713213
132VRK10.48550539
133CSNK2A20.48433551
134BRD40.47819589
135MAPK110.47527379
136SIK30.47354641
137GRK70.46965359
138PTK60.46689215
139NTRK20.45396727
140LCK0.45125988
141MAP3K100.45046995
142PLK20.45012114
143LYN0.44682006
144SGK30.43755052
145RPS6KA50.43588811
146CDK10.43472034
147MAPK120.42748334
148NTRK10.42740333
149CDK40.42078581
150RPS6KB20.41645746
151CDK20.41087606
152CSNK2A10.40936857
153ZAK0.40911772
154RAF10.40728705
155MAP3K20.40399699
156SGK4940.40319398
157SGK2230.40319398
158PTK20.39807226
159CSNK1G10.39565966
160STK40.37997780
161TTN0.37213266
162PRKCI0.37096638
163CSNK1E0.36961832
164PNCK0.36885025
165DYRK30.35345534

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.88889337
2Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006043.09393350
3Synaptic vesicle cycle_Homo sapiens_hsa047212.90960389
4Other glycan degradation_Homo sapiens_hsa005112.73164116
5Spliceosome_Homo sapiens_hsa030402.59315435
6Protein export_Homo sapiens_hsa030602.55756745
7N-Glycan biosynthesis_Homo sapiens_hsa005102.48590458
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.47080154
9Maturity onset diabetes of the young_Homo sapiens_hsa049502.44539330
10Glycosaminoglycan degradation_Homo sapiens_hsa005312.42085208
11Nucleotide excision repair_Homo sapiens_hsa034202.33897831
12Collecting duct acid secretion_Homo sapiens_hsa049662.29953887
132-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.29279059
14RNA transport_Homo sapiens_hsa030132.24164066
15Vibrio cholerae infection_Homo sapiens_hsa051102.24094675
16Cell cycle_Homo sapiens_hsa041102.14704441
17Non-homologous end-joining_Homo sapiens_hsa034502.11646773
18Pyruvate metabolism_Homo sapiens_hsa006201.96630846
19Base excision repair_Homo sapiens_hsa034101.92585276
20Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.90963364
21One carbon pool by folate_Homo sapiens_hsa006701.90822460
22Primary bile acid biosynthesis_Homo sapiens_hsa001201.87463630
23Lysosome_Homo sapiens_hsa041421.81855979
24Ribosome_Homo sapiens_hsa030101.72778962
25Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.72277498
26Homologous recombination_Homo sapiens_hsa034401.65251045
27mRNA surveillance pathway_Homo sapiens_hsa030151.53853184
28RNA polymerase_Homo sapiens_hsa030201.53539634
29Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.51709486
30Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.50061942
31Carbon metabolism_Homo sapiens_hsa012001.49534444
32Biosynthesis of amino acids_Homo sapiens_hsa012301.49023899
33DNA replication_Homo sapiens_hsa030301.46672444
34Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.46477108
35Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.42024377
36Long-term potentiation_Homo sapiens_hsa047201.40616181
37Selenocompound metabolism_Homo sapiens_hsa004501.34253425
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.33242253
39Insulin secretion_Homo sapiens_hsa049111.30499895
40Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.27514817
41Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.22889627
42Fanconi anemia pathway_Homo sapiens_hsa034601.19670439
43Fatty acid degradation_Homo sapiens_hsa000711.19045308
44Sulfur metabolism_Homo sapiens_hsa009201.18401462
45Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.18043855
46Cyanoamino acid metabolism_Homo sapiens_hsa004601.07717525
47Steroid biosynthesis_Homo sapiens_hsa001001.07216655
48Basal transcription factors_Homo sapiens_hsa030221.05903771
49Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.05670280
50Propanoate metabolism_Homo sapiens_hsa006401.04721395
51SNARE interactions in vesicular transport_Homo sapiens_hsa041301.03717520
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.01741562
53Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.00712475
54Cysteine and methionine metabolism_Homo sapiens_hsa002700.99977314
55Butanoate metabolism_Homo sapiens_hsa006500.99494882
56Nicotine addiction_Homo sapiens_hsa050330.99017451
57RNA degradation_Homo sapiens_hsa030180.98195347
58Drug metabolism - other enzymes_Homo sapiens_hsa009830.96750873
59Olfactory transduction_Homo sapiens_hsa047400.95979399
60Tryptophan metabolism_Homo sapiens_hsa003800.95422882
61Circadian entrainment_Homo sapiens_hsa047130.94992219
62Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.94818887
63Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.94348814
64Huntingtons disease_Homo sapiens_hsa050160.93998328
65Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.93601556
66Dopaminergic synapse_Homo sapiens_hsa047280.93592029
67Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.93199609
68Phagosome_Homo sapiens_hsa041450.91226691
69Purine metabolism_Homo sapiens_hsa002300.87230635
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.86813119
71Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.86668392
72Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.85805872
73Glutathione metabolism_Homo sapiens_hsa004800.84914354
74Pentose phosphate pathway_Homo sapiens_hsa000300.84334333
75GABAergic synapse_Homo sapiens_hsa047270.82957902
76Viral carcinogenesis_Homo sapiens_hsa052030.79669752
77p53 signaling pathway_Homo sapiens_hsa041150.79135135
78Glucagon signaling pathway_Homo sapiens_hsa049220.78942349
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78113552
80Adherens junction_Homo sapiens_hsa045200.77221796
81Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.75637673
82Peroxisome_Homo sapiens_hsa041460.75248934
83Amphetamine addiction_Homo sapiens_hsa050310.75209847
84Aldosterone synthesis and secretion_Homo sapiens_hsa049250.75080732
85Proteasome_Homo sapiens_hsa030500.74598137
86Galactose metabolism_Homo sapiens_hsa000520.73278632
87Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.73169953
88Mismatch repair_Homo sapiens_hsa034300.73155562
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.71925598
90Fat digestion and absorption_Homo sapiens_hsa049750.71736430
91Sulfur relay system_Homo sapiens_hsa041220.71082737
92Shigellosis_Homo sapiens_hsa051310.69824331
93Central carbon metabolism in cancer_Homo sapiens_hsa052300.68947623
94Fructose and mannose metabolism_Homo sapiens_hsa000510.68812077
95Pancreatic cancer_Homo sapiens_hsa052120.68064033
96Pancreatic secretion_Homo sapiens_hsa049720.67757818
97Folate biosynthesis_Homo sapiens_hsa007900.66545869
98Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.65641500
99Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.65050485
100Oxidative phosphorylation_Homo sapiens_hsa001900.63421011
101Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62400099
102Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.61635878
103Epstein-Barr virus infection_Homo sapiens_hsa051690.60909456
104Vitamin B6 metabolism_Homo sapiens_hsa007500.60366150
105Type II diabetes mellitus_Homo sapiens_hsa049300.59360800
106Small cell lung cancer_Homo sapiens_hsa052220.59315285
107Bladder cancer_Homo sapiens_hsa052190.58174497
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.57389611
109Antigen processing and presentation_Homo sapiens_hsa046120.56307101
110Renin secretion_Homo sapiens_hsa049240.56171793
111Fatty acid metabolism_Homo sapiens_hsa012120.53848617
112Alcoholism_Homo sapiens_hsa050340.53115621
113Chronic myeloid leukemia_Homo sapiens_hsa052200.53036602
114Regulation of autophagy_Homo sapiens_hsa041400.49812954
115Arginine and proline metabolism_Homo sapiens_hsa003300.48096980
116Glycerolipid metabolism_Homo sapiens_hsa005610.47143061
117Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.46701722
118Non-small cell lung cancer_Homo sapiens_hsa052230.45726753
119ABC transporters_Homo sapiens_hsa020100.45408282
120Morphine addiction_Homo sapiens_hsa050320.45170738
121Arginine biosynthesis_Homo sapiens_hsa002200.44357480
122Glutamatergic synapse_Homo sapiens_hsa047240.43998001
123Alzheimers disease_Homo sapiens_hsa050100.43915764
124Pyrimidine metabolism_Homo sapiens_hsa002400.42945650
125Hippo signaling pathway_Homo sapiens_hsa043900.42269243
126Cholinergic synapse_Homo sapiens_hsa047250.41612231
127Parkinsons disease_Homo sapiens_hsa050120.41601933
128Oxytocin signaling pathway_Homo sapiens_hsa049210.41542018
129Tight junction_Homo sapiens_hsa045300.40758800
130Thyroid cancer_Homo sapiens_hsa052160.40492292
131Fatty acid elongation_Homo sapiens_hsa000620.39924595
132Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.39667330
133Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39481044
134Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.38808321
135Oocyte meiosis_Homo sapiens_hsa041140.37598496
136Metabolic pathways_Homo sapiens_hsa011000.37009913
137Legionellosis_Homo sapiens_hsa051340.36849876
138Glioma_Homo sapiens_hsa052140.35739997
139VEGF signaling pathway_Homo sapiens_hsa043700.35640289
140Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35399922
141Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.34645638
142Phenylalanine metabolism_Homo sapiens_hsa003600.34630890
143Endometrial cancer_Homo sapiens_hsa052130.33244277
144Insulin signaling pathway_Homo sapiens_hsa049100.31438646
145beta-Alanine metabolism_Homo sapiens_hsa004100.31040969
146Gastric acid secretion_Homo sapiens_hsa049710.30716023
147Renin-angiotensin system_Homo sapiens_hsa046140.30278769
148Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.29113532
149mTOR signaling pathway_Homo sapiens_hsa041500.28231205
150Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27527123
151Proteoglycans in cancer_Homo sapiens_hsa052050.26604266
152Apoptosis_Homo sapiens_hsa042100.25990654
153Colorectal cancer_Homo sapiens_hsa052100.25659397
154MicroRNAs in cancer_Homo sapiens_hsa052060.24871645
155Salmonella infection_Homo sapiens_hsa051320.24723880
156Renal cell carcinoma_Homo sapiens_hsa052110.24182253
157Systemic lupus erythematosus_Homo sapiens_hsa053220.23109603

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