PHKG1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of protein kinase C signaling (GO:0090037)9.69882735
2short-term memory (GO:0007614)9.61566427
3negative regulation of execution phase of apoptosis (GO:1900118)9.31873095
4protein localization to cilium (GO:0061512)8.16527783
5protein insertion into membrane (GO:0051205)7.97471525
6muscle filament sliding (GO:0030049)7.32529017
7actin-myosin filament sliding (GO:0033275)7.32529017
8GMP metabolic process (GO:0046037)7.19002901
9regulation of skeletal muscle contraction (GO:0014819)7.05419277
10sensory perception of chemical stimulus (GO:0007606)6.92409197
11melanin biosynthetic process (GO:0042438)6.51487050
12eyelid development in camera-type eye (GO:0061029)6.48754009
13regulation of protein kinase A signaling (GO:0010738)6.25000912
14metanephric tubule development (GO:0072170)6.16750089
15metanephric nephron tubule development (GO:0072234)6.16750089
16sarcoplasmic reticulum calcium ion transport (GO:0070296)6.13963800
17skeletal muscle contraction (GO:0003009)6.11672832
18actin-mediated cell contraction (GO:0070252)6.01946184
19melanin metabolic process (GO:0006582)5.94315140
20metanephric nephron epithelium development (GO:0072243)5.65801368
21regulation of chromatin binding (GO:0035561)5.64132460
22regulation of relaxation of muscle (GO:1901077)5.59057879
23secondary metabolite biosynthetic process (GO:0044550)5.46266604
24centriole replication (GO:0007099)5.32043148
25olfactory bulb development (GO:0021772)5.30726800
26metanephric epithelium development (GO:0072207)5.27386202
27UV protection (GO:0009650)5.27385946
28protein heterotetramerization (GO:0051290)5.26392251
29mRNA modification (GO:0016556)5.21047779
30regulation of protein kinase C signaling (GO:0090036)5.19666005
31collecting duct development (GO:0072044)5.16139737
32regulation of execution phase of apoptosis (GO:1900117)5.11791400
33positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.92426078
34central nervous system myelination (GO:0022010)4.72394246
35axon ensheathment in central nervous system (GO:0032291)4.72394246
36postsynaptic membrane organization (GO:0001941)4.70872256
37maternal placenta development (GO:0001893)4.61056060
38presynaptic membrane assembly (GO:0097105)4.57085620
39axoneme assembly (GO:0035082)4.40766698
40response to muscle activity (GO:0014850)4.40108232
41retina layer formation (GO:0010842)4.37058252
42striated muscle contraction (GO:0006941)4.35420423
43myofibril assembly (GO:0030239)4.33750488
44facial nerve structural organization (GO:0021612)4.32307184
45regulation of glucokinase activity (GO:0033131)4.30686028
46regulation of hexokinase activity (GO:1903299)4.30686028
47regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.25531087
48axonemal dynein complex assembly (GO:0070286)4.15764304
49interkinetic nuclear migration (GO:0022027)4.02449241
50positive regulation of type I interferon-mediated signaling pathway (GO:0060340)4.00929337
51creatine metabolic process (GO:0006600)3.99282199
52response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.93003817
53negative regulation of astrocyte differentiation (GO:0048712)3.92910481
54actin filament-based movement (GO:0030048)3.92290430
55presynaptic membrane organization (GO:0097090)3.87174622
56respiratory chain complex IV assembly (GO:0008535)3.84400622
57nephron epithelium development (GO:0072009)3.84078413
58mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.83811567
59centriole assembly (GO:0098534)3.82664485
60cellular ketone body metabolic process (GO:0046950)3.81195008
61negative regulation of keratinocyte proliferation (GO:0010839)3.77599160
62skeletal muscle fiber development (GO:0048741)3.77097411
63nephron tubule development (GO:0072080)3.76372194
64regulation of cilium movement (GO:0003352)3.75341779
65cytochrome complex assembly (GO:0017004)3.74275837
66regulation of cell communication by electrical coupling (GO:0010649)3.72883742
67inositol phosphate catabolic process (GO:0071545)3.69061905
68sarcomere organization (GO:0045214)3.68460891
69protein complex biogenesis (GO:0070271)3.65067167
70myotube cell development (GO:0014904)3.63765573
71regulation of alternative mRNA splicing, via spliceosome (GO:0000381)3.63130126
72phosphorylated carbohydrate dephosphorylation (GO:0046838)3.58434591
73inositol phosphate dephosphorylation (GO:0046855)3.58434591
74neuron cell-cell adhesion (GO:0007158)3.55936927
75regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.55212854
76positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.54190980
77regulation of development, heterochronic (GO:0040034)3.52658927
78ubiquinone biosynthetic process (GO:0006744)3.50870744
79calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.50179456
80water-soluble vitamin biosynthetic process (GO:0042364)3.49100931
81muscle contraction (GO:0006936)3.48911817
82auditory receptor cell differentiation (GO:0042491)3.46566073
83renal tubule development (GO:0061326)3.43385474
84regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.41022432
85response to inactivity (GO:0014854)3.36843269
86ovulation cycle (GO:0042698)3.36076753
87protein polyglutamylation (GO:0018095)3.32569433
88respiratory tube development (GO:0030323)3.32340369
89ketone body metabolic process (GO:1902224)3.32195653
90respiratory electron transport chain (GO:0022904)3.29612441
91electron transport chain (GO:0022900)3.28981358
92regulation of female gonad development (GO:2000194)3.27159279
93cranial nerve structural organization (GO:0021604)3.26294480
94negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.25324352
95* glycogen catabolic process (GO:0005980)3.24389094
96cilium movement (GO:0003341)3.23540231
97mitochondrial respiratory chain complex assembly (GO:0033108)3.23537118
98AMP metabolic process (GO:0046033)3.23161831
99DNA methylation involved in gamete generation (GO:0043046)3.18997470
100neuronal action potential propagation (GO:0019227)3.17245159
101negative regulation of cytosolic calcium ion concentration (GO:0051481)3.16994577
102intraciliary transport (GO:0042073)3.16125615
103mannose metabolic process (GO:0006013)3.14059546
104regulation of timing of cell differentiation (GO:0048505)3.13612450
105muscle system process (GO:0003012)3.12897084
106membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.11466995
107microtubule severing (GO:0051013)3.10273855
108positive regulation of calcium ion import (GO:0090280)3.07565879
109positive regulation of glycolytic process (GO:0045821)3.05275729
110* glucan catabolic process (GO:0009251)3.04806952
111muscle fiber development (GO:0048747)3.03820596
112ubiquinone metabolic process (GO:0006743)3.03811620
113cilium morphogenesis (GO:0060271)3.02593456
114plasma membrane repair (GO:0001778)3.01717043
115negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.00087421
116regulation of membrane repolarization (GO:0060306)2.99712121
117negative regulation of calcium ion transmembrane transport (GO:1903170)2.99252296
118negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.99252296
119cellular response to virus (GO:0098586)2.98472849
120positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.98157247
121positive regulation of glycogen metabolic process (GO:0070875)2.98075701
122photoreceptor cell maintenance (GO:0045494)2.97176281
123zinc ion transmembrane transport (GO:0071577)2.96670972
124adenosine metabolic process (GO:0046085)2.94389927
125polyol catabolic process (GO:0046174)2.94339745
126regulation of axon extension involved in axon guidance (GO:0048841)2.92812623
127mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.92763391
128mitochondrial respiratory chain complex I assembly (GO:0032981)2.92763391
129NADH dehydrogenase complex assembly (GO:0010257)2.92763391
130response to folic acid (GO:0051593)2.91201475
131positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.89887217
132nonmotile primary cilium assembly (GO:0035058)2.88961443
133actomyosin structure organization (GO:0031032)2.88081564
134xenobiotic catabolic process (GO:0042178)2.87214534
135regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.85273498
136regulation of actin filament-based movement (GO:1903115)2.84406630
137cardiac muscle contraction (GO:0060048)2.81729929
138skeletal muscle adaptation (GO:0043501)2.81420543
139centrosome duplication (GO:0051298)2.81095378
140DNA deamination (GO:0045006)2.80099368
141skeletal muscle tissue development (GO:0007519)2.79793045
142succinate metabolic process (GO:0006105)2.78040772
143* glucan biosynthetic process (GO:0009250)2.77886330
144* glycogen biosynthetic process (GO:0005978)2.77886330
145mitochondrial calcium ion homeostasis (GO:0051560)2.77727484
146dopamine transport (GO:0015872)2.77341844
147branched-chain amino acid catabolic process (GO:0009083)2.76752752
148quinone biosynthetic process (GO:1901663)2.76065735
149epithelial cell morphogenesis (GO:0003382)2.74681502
150fatty acid transmembrane transport (GO:1902001)2.74485959
151renal system development (GO:0072001)2.73095044
152cardiac myofibril assembly (GO:0055003)2.72605015
153regulation of striated muscle contraction (GO:0006942)2.72564155
154positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.67181284
155positive regulation of cation channel activity (GO:2001259)2.65425726
156establishment of viral latency (GO:0019043)2.64704086
157regulation of keratinocyte proliferation (GO:0010837)2.64446797
158retina development in camera-type eye (GO:0060041)2.64261667
159L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.63811831
160omega-hydroxylase P450 pathway (GO:0097267)2.63418049
161carnitine shuttle (GO:0006853)2.63281632
162ganglion development (GO:0061548)2.63191170
163regulation of oxidative phosphorylation (GO:0002082)2.62758707
164alanine transport (GO:0032328)2.62118781
165magnesium ion transport (GO:0015693)2.61792877
166nitric oxide mediated signal transduction (GO:0007263)2.61314438
167epithelial cilium movement (GO:0003351)2.60716005
168cell proliferation in forebrain (GO:0021846)2.59935076
169ADP metabolic process (GO:0046031)2.59659155
170regulation of acyl-CoA biosynthetic process (GO:0050812)2.59617725
171innate immune response in mucosa (GO:0002227)2.59326555
172Leydig cell differentiation (GO:0033327)2.59166378
173negative regulation of complement activation (GO:0045916)2.57988615
174valine metabolic process (GO:0006573)2.56950199
175lipid particle organization (GO:0034389)2.56949688
176regulation of transcription initiation from RNA polymerase II promoter (GO:0060260)2.56939327
177behavioral response to nicotine (GO:0035095)2.55663612
178spermatid nucleus differentiation (GO:0007289)2.55589212
179regulation of energy homeostasis (GO:2000505)2.54988752
180cytidine deamination (GO:0009972)2.54091766
181cytidine metabolic process (GO:0046087)2.54091766
182cytidine catabolic process (GO:0006216)2.54091766
183positive regulation of sodium ion transmembrane transport (GO:1902307)2.53255358
184* cellular polysaccharide catabolic process (GO:0044247)2.52433164
185regulation of sequestering of triglyceride (GO:0010889)2.52418760
186mucosal immune response (GO:0002385)2.51710321
187forebrain neuron development (GO:0021884)2.51456198
188chemical homeostasis within a tissue (GO:0048875)2.51371434
189adipose tissue development (GO:0060612)2.51332085
190insulin secretion (GO:0030073)2.50844172
191purine nucleotide salvage (GO:0032261)2.50280418
192epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.50059304
193neurogenesis (GO:0022008)2.46818844
194regulation of non-canonical Wnt signaling pathway (GO:2000050)2.46761784
195DNA methylation (GO:0006306)2.45584591
196DNA alkylation (GO:0006305)2.45584591
197sensory perception of smell (GO:0007608)11.8643206

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human8.62566354
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.95266612
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.89736538
4TAF15_26573619_Chip-Seq_HEK293_Human3.21620609
5VDR_22108803_ChIP-Seq_LS180_Human3.17885851
6STAT6_21828071_ChIP-Seq_BEAS2B_Human2.81399574
7EED_16625203_ChIP-ChIP_MESCs_Mouse2.64994367
8RBPJ_22232070_ChIP-Seq_NCS_Mouse2.48619183
9PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.32743329
10ZNF274_21170338_ChIP-Seq_K562_Hela2.32397346
11AR_21572438_ChIP-Seq_LNCaP_Human2.31721090
12E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.28099567
13PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.23209705
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.23116379
15RNF2_18974828_ChIP-Seq_MESCs_Mouse2.20401812
16EZH2_18974828_ChIP-Seq_MESCs_Mouse2.20401812
17IGF1R_20145208_ChIP-Seq_DFB_Human2.20349574
18EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human2.14334768
19RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.13829425
20JARID2_20064375_ChIP-Seq_MESCs_Mouse2.13619841
21BMI1_23680149_ChIP-Seq_NPCS_Mouse2.11708699
22CBX2_27304074_Chip-Seq_ESCs_Mouse2.03991563
23POU3F2_20337985_ChIP-ChIP_501MEL_Human2.00522510
24EZH2_27304074_Chip-Seq_ESCs_Mouse1.93547877
25IRF8_22096565_ChIP-ChIP_GC-B_Human1.89630461
26RNF2_27304074_Chip-Seq_NSC_Mouse1.89571562
27GBX2_23144817_ChIP-Seq_PC3_Human1.85046840
28TRIM28_21343339_ChIP-Seq_HEK293_Human1.82563205
29* SRF_21415370_ChIP-Seq_HL-1_Mouse1.80198141
30EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.75297681
31SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.74233874
32JARID2_20075857_ChIP-Seq_MESCs_Mouse1.69067869
33SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.67214333
34SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.67111035
35PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.62309926
36CDX2_19796622_ChIP-Seq_MESCs_Mouse1.61326865
37HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.59210576
38GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.59106057
39IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.57397550
40EZH2_27294783_Chip-Seq_NPCs_Mouse1.56723159
41SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.56459323
42KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.56078822
43SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.55314008
44TP53_22573176_ChIP-Seq_HFKS_Human1.53003133
45NANOG_19829295_ChIP-Seq_ESCs_Human1.52758629
46SOX2_19829295_ChIP-Seq_ESCs_Human1.52758629
47SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.52498382
48IRF1_19129219_ChIP-ChIP_H3396_Human1.51794843
49LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48694941
50RING1B_27294783_Chip-Seq_ESCs_Mouse1.48649754
51SUZ12_27294783_Chip-Seq_ESCs_Mouse1.48421207
52FUS_26573619_Chip-Seq_HEK293_Human1.46229520
53AHR_22903824_ChIP-Seq_MCF-7_Human1.44256376
54CRX_20693478_ChIP-Seq_RETINA_Mouse1.40297378
55KDM2B_26808549_Chip-Seq_K562_Human1.40048144
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.39894115
57TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39894115
58RING1B_27294783_Chip-Seq_NPCs_Mouse1.39765013
59HTT_18923047_ChIP-ChIP_STHdh_Human1.39368433
60ETV2_25802403_ChIP-Seq_MESCs_Mouse1.38331664
61LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.37325431
62WT1_19549856_ChIP-ChIP_CCG9911_Human1.34138456
63EZH2_27294783_Chip-Seq_ESCs_Mouse1.33995703
64GABP_17652178_ChIP-ChIP_JURKAT_Human1.33312805
65RXR_22158963_ChIP-Seq_LIVER_Mouse1.31328428
66P300_19829295_ChIP-Seq_ESCs_Human1.29834872
67EGR1_23403033_ChIP-Seq_LIVER_Mouse1.29098009
68BP1_19119308_ChIP-ChIP_Hs578T_Human1.28981306
69FOXA1_25329375_ChIP-Seq_VCAP_Human1.27450298
70FOXA1_27270436_Chip-Seq_PROSTATE_Human1.27450298
71MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.26863759
72RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.25920231
73IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25717450
74CBP_20019798_ChIP-Seq_JUKART_Human1.25717450
75CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.25292039
76CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.24875356
77MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.24834759
78SMAD4_21799915_ChIP-Seq_A2780_Human1.24387991
79AR_20517297_ChIP-Seq_VCAP_Human1.23277105
80* CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.22681346
81ZFP57_27257070_Chip-Seq_ESCs_Mouse1.22614303
82AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.22320138
83NR3C1_21868756_ChIP-Seq_MCF10A_Human1.22012099
84P53_22387025_ChIP-Seq_ESCs_Mouse1.21802095
85GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.20838371
86SA1_27219007_Chip-Seq_ERYTHROID_Human1.20671486
87CDX2_22108803_ChIP-Seq_LS180_Human1.20042104
88CTBP2_25329375_ChIP-Seq_LNCAP_Human1.18951322
89PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.18580670
90SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.18163603
91BCAT_22108803_ChIP-Seq_LS180_Human1.17954442
92RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17546648
93BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.17295582
94AR_25329375_ChIP-Seq_VCAP_Human1.17153982
95STAT3_18555785_Chip-Seq_ESCs_Mouse1.16325829
96OCT4_21477851_ChIP-Seq_ESCs_Mouse1.16300705
97NFIB_24661679_ChIP-Seq_LUNG_Mouse1.15494207
98EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.15142006
99DROSHA_22980978_ChIP-Seq_HELA_Human1.13442764
100KLF5_20875108_ChIP-Seq_MESCs_Mouse1.12856052
101ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.11939211
102GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.11386542
103STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.11360558
104NANOG_18555785_Chip-Seq_ESCs_Mouse1.11121086
105MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.10334551
106PHF8_20622853_ChIP-Seq_HELA_Human1.09271843
107FOXH1_21741376_ChIP-Seq_EPCs_Human1.08935448
108PCGF2_27294783_Chip-Seq_NPCs_Mouse1.08581281
109FLI1_27457419_Chip-Seq_LIVER_Mouse1.08270977
110* TCF4_23295773_ChIP-Seq_U87_Human1.08118585
111EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.07204184
112GATA3_21878914_ChIP-Seq_MCF-7_Human1.07135213
113SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.06932039
114HOXB7_26014856_ChIP-Seq_BT474_Human1.06663468
115EST1_17652178_ChIP-ChIP_JURKAT_Human1.06593365
116SUZ12_18555785_Chip-Seq_ESCs_Mouse1.06228433
117FOXA1_21572438_ChIP-Seq_LNCaP_Human1.05421124
118SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04397976
119UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.04098080
120CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.03009128
121E2F1_18555785_Chip-Seq_ESCs_Mouse1.02746088
122CTBP1_25329375_ChIP-Seq_LNCAP_Human1.02735966
123SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.02379690
124RNF2_27304074_Chip-Seq_ESCs_Mouse1.02149132
125SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.01981705
126STAT3_23295773_ChIP-Seq_U87_Human1.01688200
127PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.01385109
128AUTS2_25519132_ChIP-Seq_293T-REX_Human1.01278031
129* NCOR_22424771_ChIP-Seq_293T_Human1.00871486
130NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.00576882
131* MYC_19829295_ChIP-Seq_ESCs_Human1.00359402
132SOX2_18555785_Chip-Seq_ESCs_Mouse1.00241839
133SMAD4_21741376_ChIP-Seq_EPCs_Human1.00080469
134STAT1_20625510_ChIP-Seq_HELA_Human0.99831490
135TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.99186512
136NOTCH1_21737748_ChIP-Seq_TLL_Human0.98933878
137IKZF1_21737484_ChIP-ChIP_HCT116_Human0.98781723
138FLI1_21867929_ChIP-Seq_TH2_Mouse0.98727538
139* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.98596153
140CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.98001009
141TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97849648
142TCF3_18692474_ChIP-Seq_MESCs_Mouse0.97581589
143CTCF_18555785_Chip-Seq_ESCs_Mouse0.97266936
144OCT4_18555785_Chip-Seq_ESCs_Mouse0.96682552
145CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96263788
146NANOG_20526341_ChIP-Seq_ESCs_Human0.95583353
147GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95391934
148RBPJ_21746931_ChIP-Seq_IB4_Human0.93085436
149PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92976247
150NFE2_27457419_Chip-Seq_LIVER_Mouse0.92849207
151ER_23166858_ChIP-Seq_MCF-7_Human0.92630100
152PCGF2_27294783_Chip-Seq_ESCs_Mouse0.92254872
153LXR_22158963_ChIP-Seq_LIVER_Mouse0.92216855
154LXR_22292898_ChIP-Seq_THP-1_Human0.92054089
155PKCTHETA_26484144_Chip-Seq_BREAST_Human0.91976881
156CTCF_27219007_Chip-Seq_Bcells_Human0.91808926
157GATA6_21074721_ChIP-Seq_CACO-2_Human0.90565435
158POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.89921870
159TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.89373736
160RUNX1_27457419_Chip-Seq_LIVER_Mouse0.88900302
161SUZ12_27294783_Chip-Seq_NPCs_Mouse0.88828806
162TTF2_22483619_ChIP-Seq_HELA_Human0.88647027
163KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.88143304
164ZFP281_27345836_Chip-Seq_ESCs_Mouse0.86735019
165ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.86595007
166GATA1_22025678_ChIP-Seq_K562_Human0.85981900
167BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.85420959
168KDM2B_26808549_Chip-Seq_JURKAT_Human0.84852372
169TOP2B_26459242_ChIP-Seq_MCF-7_Human0.84604281
170ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.84580378
171PPARA_22158963_ChIP-Seq_LIVER_Mouse0.83803603
172PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.83112914
173TAF2_19829295_ChIP-Seq_ESCs_Human0.83047885
174CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.82322576
175SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.81401761
176NFYB_21822215_ChIP-Seq_K562_Human0.81144174
177* SOX2_21211035_ChIP-Seq_LN229_Human0.80790508
178MAF_26560356_Chip-Seq_TH2_Human0.80305752

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color9.46471371
2MP0001984_abnormal_olfaction6.13495858
3MP0005409_darkened_coat_color6.02112702
4MP0003646_muscle_fatigue5.75408258
5MP0001188_hyperpigmentation5.71056178
6MP0004145_abnormal_muscle_electrophysio5.38329098
7MP0004381_abnormal_hair_follicle5.29569199
8MP0002837_dystrophic_cardiac_calcinosis5.00227638
9MP0000749_muscle_degeneration4.11852911
10MP0005174_abnormal_tail_pigmentation3.60788738
11MP0000751_myopathy3.41624343
12MP0004036_abnormal_muscle_relaxation3.10003571
13MP0009780_abnormal_chondrocyte_physiolo2.84339400
14MP0000013_abnormal_adipose_tissue2.68301378
15MP0002106_abnormal_muscle_physiology2.64257120
16MP0006036_abnormal_mitochondrial_physio2.58063045
17MP0000015_abnormal_ear_pigmentation2.35706738
18MP0002332_abnormal_exercise_endurance2.33903050
19MP0004742_abnormal_vestibular_system2.29613821
20MP0005369_muscle_phenotype2.23365731
21MP0005620_abnormal_muscle_contractility2.21861972
22MP0004215_abnormal_myocardial_fiber2.17117909
23MP0000747_muscle_weakness2.15464033
24MP0002876_abnormal_thyroid_physiology2.14206964
25MP0008789_abnormal_olfactory_epithelium2.11953249
26MP0003195_calcinosis2.09316434
27MP0004084_abnormal_cardiac_muscle2.08542628
28MP0002269_muscular_atrophy2.06887185
29MP0009379_abnormal_foot_pigmentation2.04741582
30MP0005084_abnormal_gallbladder_morpholo1.99917091
31MP0005645_abnormal_hypothalamus_physiol1.99657815
32MP0005330_cardiomyopathy1.97444138
33MP0004130_abnormal_muscle_cell1.96774026
34MP0005379_endocrine/exocrine_gland_phen1.94110103
35MP0004087_abnormal_muscle_fiber1.92318392
36MP0000759_abnormal_skeletal_muscle1.90861646
37MP0002163_abnormal_gland_morphology1.80160920
38MP0002972_abnormal_cardiac_muscle1.59595516
39MP0000566_synostosis1.59594502
40MP0002638_abnormal_pupillary_reflex1.56993285
41MP0005646_abnormal_pituitary_gland1.56706525
42MP0000750_abnormal_muscle_regeneration1.56017275
43MP0004043_abnormal_pH_regulation1.55200939
44MP0002102_abnormal_ear_morphology1.52085391
45MP0001853_heart_inflammation1.49790068
46MP0003252_abnormal_bile_duct1.47489985
47MP0008775_abnormal_heart_ventricle1.46311310
48MP0001485_abnormal_pinna_reflex1.44765629
49MP0006072_abnormal_retinal_apoptosis1.44414685
50MP0005423_abnormal_somatic_nervous1.44029317
51MP0005394_taste/olfaction_phenotype1.43938651
52MP0005499_abnormal_olfactory_system1.43938651
53MP0002693_abnormal_pancreas_physiology1.43042745
54MP0004270_analgesia1.39388109
55MP0005332_abnormal_amino_acid1.37655935
56MP0002277_abnormal_respiratory_mucosa1.37436591
57MP0003806_abnormal_nucleotide_metabolis1.36322662
58MP0002282_abnormal_trachea_morphology1.34376884
59MP0005083_abnormal_biliary_tract1.33283812
60MP0005266_abnormal_metabolism1.33135301
61MP0001968_abnormal_touch/_nociception1.26748883
62MP0003941_abnormal_skin_development1.25848270
63MP0004147_increased_porphyrin_level1.25200330
64MP0001944_abnormal_pancreas_morphology1.24480279
65MP0009046_muscle_twitch1.24392009
66MP0001299_abnormal_eye_distance/1.23033215
67MP0002909_abnormal_adrenal_gland1.22689090
68MP0002078_abnormal_glucose_homeostasis1.19733963
69MP0003137_abnormal_impulse_conducting1.18628888
70MP0000049_abnormal_middle_ear1.18087127
71MP0002160_abnormal_reproductive_system1.17955518
72MP0001986_abnormal_taste_sensitivity1.16179149
73MP0002177_abnormal_outer_ear1.15548931
74MP0003315_abnormal_perineum_morphology1.15183798
75MP0002138_abnormal_hepatobiliary_system1.13424363
76MP0002108_abnormal_muscle_morphology1.13120551
77MP0005257_abnormal_intraocular_pressure1.12540191
78MP0002752_abnormal_somatic_nervous1.10958870
79MP0003937_abnormal_limbs/digits/tail_de1.10601739
80MP0005451_abnormal_body_composition1.10110632
81MP0001501_abnormal_sleep_pattern1.08824624
82MP0005167_abnormal_blood-brain_barrier1.08110231
83MP0003303_peritoneal_inflammation1.07502540
84MP0008872_abnormal_physiological_respon1.06699801
85MP0002184_abnormal_innervation1.05475529
86MP0004233_abnormal_muscle_weight1.05343766
87MP0004133_heterotaxia1.04599047
88MP0002095_abnormal_skin_pigmentation1.04287737
89MP0004142_abnormal_muscle_tone1.04103554
90MP0009250_abnormal_appendicular_skeleto1.03939074
91MP0003693_abnormal_embryo_hatching1.03101177
92MP0005253_abnormal_eye_physiology1.00934043
93MP0004085_abnormal_heartbeat1.00304771
94MP0002928_abnormal_bile_duct0.99145792
95MP0002249_abnormal_larynx_morphology0.98752980
96MP0004510_myositis0.98258748
97MP0006292_abnormal_olfactory_placode0.98044862
98MP0000003_abnormal_adipose_tissue0.97873862
99MP0001486_abnormal_startle_reflex0.97791199
100MP0001340_abnormal_eyelid_morphology0.95141842
101MP0003718_maternal_effect0.94203681
102MP0002233_abnormal_nose_morphology0.92996390
103MP0002653_abnormal_ependyma_morphology0.91959494
104MP0005595_abnormal_vascular_smooth0.91565030
105MP0001286_abnormal_eye_development0.91334403
106MP0004885_abnormal_endolymph0.90756970
107MP0003787_abnormal_imprinting0.90750842
108MP0001756_abnormal_urination0.90554501
109MP0010329_abnormal_lipoprotein_level0.90279952
110MP0005535_abnormal_body_temperature0.90175221
111MP0000858_altered_metastatic_potential0.89695146
112MP0003724_increased_susceptibility_to0.88166278
113MP0005385_cardiovascular_system_phenoty0.87106597
114MP0001544_abnormal_cardiovascular_syste0.87106597
115MP0003221_abnormal_cardiomyocyte_apopto0.86723676
116MP0000230_abnormal_systemic_arterial0.85510149
117MP0009764_decreased_sensitivity_to0.84030169
118MP0004484_altered_response_of0.83658282
119MP0001905_abnormal_dopamine_level0.83221475
120MP0005636_abnormal_mineral_homeostasis0.82793710
121MP0009745_abnormal_behavioral_response0.82668953
122MP0003283_abnormal_digestive_organ0.82452161
123MP0001765_abnormal_ion_homeostasis0.81257692
124MP0003938_abnormal_ear_development0.80583295
125MP0005165_increased_susceptibility_to0.79702181
126MP0001293_anophthalmia0.79188421
127MP0001542_abnormal_bone_strength0.78395963
128MP0009384_cardiac_valve_regurgitation0.76496150
129MP0002971_abnormal_brown_adipose0.76465139
130MP0005085_abnormal_gallbladder_physiolo0.76404122
131MP0005551_abnormal_eye_electrophysiolog0.75555784
132MP0003045_fibrosis0.74690695
133MP0002254_reproductive_system_inflammat0.74505887
134MP0010234_abnormal_vibrissa_follicle0.73433916
135MP0003879_abnormal_hair_cell0.73106475
136MP0002092_abnormal_eye_morphology0.72486497
137MP0003011_delayed_dark_adaptation0.69450503
138MP0003453_abnormal_keratinocyte_physiol0.69182068
139MP0004134_abnormal_chest_morphology0.67302678
140MP0002882_abnormal_neuron_morphology0.66918984
141MP0001661_extended_life_span0.65986981
142MP0009333_abnormal_splenocyte_physiolog0.65838745
143MP0002067_abnormal_sensory_capabilities0.65824443
144MP0003880_abnormal_central_pattern0.65787169
145MP0004883_abnormal_blood_vessel0.65593805
146MP0005220_abnormal_exocrine_pancreas0.65567302
147MP0010386_abnormal_urinary_bladder0.64500106
148MP0002139_abnormal_hepatobiliary_system0.64216900
149MP0002152_abnormal_brain_morphology0.63449972
150MP0008875_abnormal_xenobiotic_pharmacok0.63008517
151MP0001970_abnormal_pain_threshold0.61911993
152MP0005367_renal/urinary_system_phenotyp0.61322402
153MP0000516_abnormal_urinary_system0.61322402
154MP0001764_abnormal_homeostasis0.61210058
155MP0006035_abnormal_mitochondrial_morpho0.60664266
156MP0005365_abnormal_bile_salt0.60555387
157MP0000427_abnormal_hair_cycle0.60379168
158MP0005448_abnormal_energy_balance0.59441832
159MP0005075_abnormal_melanosome_morpholog0.58542343
160MP0005452_abnormal_adipose_tissue0.58536485
161MP0000767_abnormal_smooth_muscle0.58481705
162MP0002557_abnormal_social/conspecific_i0.58116914
163MP0002064_seizures0.58008579
164MP0005195_abnormal_posterior_eye0.57852479
165MP0005319_abnormal_enzyme/_coenzyme0.57551780
166MP0002751_abnormal_autonomic_nervous0.56706913
167MP0000467_abnormal_esophagus_morphology0.56063123
168MP0009765_abnormal_xenobiotic_induced0.55977125
169MP0005164_abnormal_response_to0.55899951
170MP0002734_abnormal_mechanical_nocicepti0.55829339
171MP0005360_urolithiasis0.55390471
172MP0000778_abnormal_nervous_system0.54568241
173MP0000372_irregular_coat_pigmentation0.54001780
174MP0000432_abnormal_head_morphology0.52356522
175MP0003861_abnormal_nervous_system0.52071013
176MP0002272_abnormal_nervous_system0.51078216
177MP0003935_abnormal_craniofacial_develop0.49729067
178MP0000579_abnormal_nail_morphology0.49221114
179MP0008877_abnormal_DNA_methylation0.47614290
180MP0000428_abnormal_craniofacial_morphol0.47601818
181MP0005197_abnormal_uvea_morphology0.46317852
182MP0002127_abnormal_cardiovascular_syste0.45935892
183MP0005647_abnormal_sex_gland0.45838842
184MP0002098_abnormal_vibrissa_morphology0.45057540

Predicted human phenotypes

RankGene SetZ-score
1Sex reversal (HP:0012245)8.38728456
2Abnormal sex determination (HP:0012244)8.38728456
3Muscle fiber inclusion bodies (HP:0100299)8.20103531
4Nemaline bodies (HP:0003798)8.09746813
5Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)7.83654091
6Abnormality of secondary sexual hair (HP:0009888)6.66062457
7Abnormality of the axillary hair (HP:0100134)6.66062457
8Obstructive sleep apnea (HP:0002870)6.28649906
9Abnormal biliary tract physiology (HP:0012439)6.08193624
10Bile duct proliferation (HP:0001408)6.08193624
11Exercise-induced myalgia (HP:0003738)5.88913966
12Exercise-induced muscle cramps (HP:0003710)5.71057198
13Muscle hypertrophy of the lower extremities (HP:0008968)5.60635308
14Type 1 muscle fiber predominance (HP:0003803)5.47966073
15Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.31992767
16Calf muscle hypertrophy (HP:0008981)5.15108337
17Distal arthrogryposis (HP:0005684)4.71446164
18Rhinitis (HP:0012384)4.55045657
19Abnormal respiratory epithelium morphology (HP:0012253)4.44686760
20Abnormal respiratory motile cilium morphology (HP:0005938)4.44686760
21Abnormal respiratory motile cilium physiology (HP:0012261)4.27513584
22Abnormal ciliary motility (HP:0012262)4.18428606
23EMG: myopathic abnormalities (HP:0003458)4.16775523
24Split foot (HP:0001839)4.10909585
25Myopathic facies (HP:0002058)3.99375985
26Myoglobinuria (HP:0002913)3.97860424
27Chronic bronchitis (HP:0004469)3.92419260
28Rhabdomyolysis (HP:0003201)3.84263859
29Round ear (HP:0100830)3.70966058
30Alacrima (HP:0000522)3.65541088
31Abnormality of the calf musculature (HP:0001430)3.65527390
32Supernumerary spleens (HP:0009799)3.58585835
33Rimmed vacuoles (HP:0003805)3.41798189
34Hyporeflexia of lower limbs (HP:0002600)3.41204173
35Sleep apnea (HP:0010535)3.32567636
36Gonadal dysgenesis (HP:0000133)3.26055007
37Decreased lacrimation (HP:0000633)3.14888364
38Ulnar deviation of the wrist (HP:0003049)3.14167714
39Septo-optic dysplasia (HP:0100842)3.13383660
40Neck muscle weakness (HP:0000467)3.08301651
41Progressive macrocephaly (HP:0004481)3.04695852
42Muscle fiber splitting (HP:0003555)3.04064927
43Attenuation of retinal blood vessels (HP:0007843)3.04039034
44Acute necrotizing encephalopathy (HP:0006965)3.01555100
45Joint hemorrhage (HP:0005261)2.96000122
46Absent phalangeal crease (HP:0006109)2.92430787
47Abnormality of macular pigmentation (HP:0008002)2.91681761
48Bundle branch block (HP:0011710)2.86529715
49Mitochondrial inheritance (HP:0001427)2.84184066
50Ketoacidosis (HP:0001993)2.82916145
51Hepatic necrosis (HP:0002605)2.80215366
52Frequent falls (HP:0002359)2.79941533
53Bronchiectasis (HP:0002110)2.79397802
54Retinal dysplasia (HP:0007973)2.75700342
55Testicular neoplasm (HP:0010788)2.75405856
56Hyperinsulinemic hypoglycemia (HP:0000825)2.73286485
57Hyperglycemia (HP:0003074)2.71435873
58Abnormal mitochondria in muscle tissue (HP:0008316)2.68129930
59Centrally nucleated skeletal muscle fibers (HP:0003687)2.65801007
60Laryngomalacia (HP:0001601)2.65102041
61Chronic sinusitis (HP:0011109)2.64878244
62Germ cell neoplasia (HP:0100728)2.64312825
63Hepatocellular necrosis (HP:0001404)2.62138513
64Synostosis involving the elbow (HP:0003938)2.61564809
65Humeroradial synostosis (HP:0003041)2.61564809
66Increased CSF lactate (HP:0002490)2.60656483
67Abnormality of the left ventricular outflow tract (HP:0011103)2.59978805
68Subaortic stenosis (HP:0001682)2.59978805
69Optic nerve hypoplasia (HP:0000609)2.59495536
70Absent speech (HP:0001344)2.58328625
71Absent septum pellucidum (HP:0001331)2.55166092
72Large for gestational age (HP:0001520)2.53288026
73Abnormality of the septum pellucidum (HP:0007375)2.53245264
74Abnormality of skeletal muscle fiber size (HP:0012084)2.51077292
75Difficulty running (HP:0009046)2.50101018
76Male pseudohermaphroditism (HP:0000037)2.49920847
77Acute encephalopathy (HP:0006846)2.49809186
78Anosmia (HP:0000458)2.49786156
79Exercise intolerance (HP:0003546)2.42517778
80Areflexia of lower limbs (HP:0002522)2.42482414
81Malignant hyperthermia (HP:0002047)2.40811688
82Myotonia (HP:0002486)2.40641130
83Hypoglycemic coma (HP:0001325)2.40538533
84Muscle stiffness (HP:0003552)2.40443442
85Abnormal finger flexion creases (HP:0006143)2.40386547
86Asymmetric septal hypertrophy (HP:0001670)2.40142562
87Breast aplasia (HP:0100783)2.40123338
88Hyperglycinemia (HP:0002154)2.37546647
89Sudden death (HP:0001699)2.35185283
90Insulin-resistant diabetes mellitus (HP:0000831)2.34987869
91Pulmonary artery stenosis (HP:0004415)2.30098967
92Erectile abnormalities (HP:0100639)2.29623523
93Aplasia/Hypoplasia of the breasts (HP:0010311)2.29297292
94Delayed CNS myelination (HP:0002188)2.23657177
95Intellectual disability, moderate (HP:0002342)2.22549463
96Short tibia (HP:0005736)2.20371651
97Increased intramyocellular lipid droplets (HP:0012240)2.18952085
98Nephronophthisis (HP:0000090)2.18600194
99Clitoromegaly (HP:0000057)2.18529303
100Median cleft lip (HP:0000161)2.17390549
101Fetal akinesia sequence (HP:0001989)2.17364674
102Hypothermia (HP:0002045)2.17012985
103Generalized muscle weakness (HP:0003324)2.16639932
104Optic disc pallor (HP:0000543)2.16162521
105Abnormality of the pulmonary veins (HP:0011718)2.15802908
106Dysphonia (HP:0001618)2.14959894
107Delayed myelination (HP:0012448)2.14497995
108Ocular albinism (HP:0001107)2.13968273
109Facial diplegia (HP:0001349)2.08964618
110Calcaneovalgus deformity (HP:0001848)2.07482065
111Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.07060546
112Lipid accumulation in hepatocytes (HP:0006561)2.06456864
113Late onset (HP:0003584)2.06161233
114Hyperkalemia (HP:0002153)2.05964649
115Abnormal lung lobation (HP:0002101)2.04442547
116Methylmalonic acidemia (HP:0002912)2.04296047
117Abnormality of the nasal mucosa (HP:0000433)2.03879000
1183-Methylglutaconic aciduria (HP:0003535)2.03773858
119Palpitations (HP:0001962)2.03691957
120Respiratory failure (HP:0002878)2.01355632
121Molar tooth sign on MRI (HP:0002419)2.00446815
122Abnormality of midbrain morphology (HP:0002418)2.00446815
123Increased hepatocellular lipid droplets (HP:0006565)2.00184558
124Lactic acidosis (HP:0003128)2.00119507
125Increased muscle lipid content (HP:0009058)1.99981526
126Deformed tarsal bones (HP:0008119)1.97703288
127Abnormality of the renal cortex (HP:0011035)1.95371555
128Weak cry (HP:0001612)1.95210851
129EMG: neuropathic changes (HP:0003445)1.94150449
130Abnormality of aromatic amino acid family metabolism (HP:0004338)1.93537368
131Increased variability in muscle fiber diameter (HP:0003557)1.93278989
132Hemiparesis (HP:0001269)1.92421016
133Cerebral edema (HP:0002181)1.90582230
134Limb dystonia (HP:0002451)1.90086828
135Dynein arm defect of respiratory motile cilia (HP:0012255)1.89954638
136Absent/shortened dynein arms (HP:0200106)1.89954638
137Anencephaly (HP:0002323)1.89851661
138Tongue fasciculations (HP:0001308)1.89613795
139Hypoplasia of the radius (HP:0002984)1.89189972
140Fatigable weakness (HP:0003473)1.86533829
141Abnormality of the neuromuscular junction (HP:0003398)1.86533829
142Midline defect of the nose (HP:0004122)1.86348244
143Abnormality of monocarboxylic acid metabolism (HP:0010996)1.85217662
144Muscular dystrophy (HP:0003560)1.85144571
145Nonprogressive disorder (HP:0003680)1.84571336
146Dicarboxylic aciduria (HP:0003215)1.84309920
147Abnormality of dicarboxylic acid metabolism (HP:0010995)1.84309920
148Abnormality of vitamin B metabolism (HP:0004340)1.84288187
149Progressive muscle weakness (HP:0003323)1.84032085
150Decreased activity of mitochondrial respiratory chain (HP:0008972)1.83788887
151Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.83788887
152Heart block (HP:0012722)1.82458511
153Aplasia/Hypoplasia of the tibia (HP:0005772)1.81657826
154Conjunctival hamartoma (HP:0100780)1.79651926
155Dilated cardiomyopathy (HP:0001644)1.79314537
156Nasal polyposis (HP:0100582)1.78901082
157Concave nail (HP:0001598)1.78408060
158Ventricular arrhythmia (HP:0004308)1.78022621
159Muscle fibrillation (HP:0010546)1.76670721
160Cleft eyelid (HP:0000625)1.76607489
161Bifid tongue (HP:0010297)1.75998601
162Pancreatic cysts (HP:0001737)1.75638157
163Paralysis (HP:0003470)1.75000431
164Iris hypopigmentation (HP:0007730)1.74191598
165Malnutrition (HP:0004395)1.74162072
166Delayed gross motor development (HP:0002194)1.74134451
167Complete atrioventricular canal defect (HP:0001674)1.71594215
168Prolonged QT interval (HP:0001657)1.68776983
169Renal cortical cysts (HP:0000803)1.68653638
170Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.67946090
171Type 2 muscle fiber atrophy (HP:0003554)1.67609043
172Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.67538792
173Cutaneous finger syndactyly (HP:0010554)1.67302346
174Methylmalonic aciduria (HP:0012120)1.67033249
175True hermaphroditism (HP:0010459)1.66866010
176Atrioventricular canal defect (HP:0006695)1.64146142
177Testicular atrophy (HP:0000029)1.64128343
178Congenital hepatic fibrosis (HP:0002612)1.63883426
179Peripheral hypomyelination (HP:0007182)1.62552320
180Prolonged neonatal jaundice (HP:0006579)1.61293629
181Intrahepatic cholestasis (HP:0001406)1.61074295
182Cerebral palsy (HP:0100021)1.60941285
183Generalized hypotonia (HP:0001290)1.60142529
184Bronchitis (HP:0012387)1.59856412
185Anomalous pulmonary venous return (HP:0010772)1.57814587
186Pruritus (HP:0000989)1.57625913
187Renal hypoplasia (HP:0000089)1.57266447
188Trismus (HP:0000211)1.57100071
189Ketosis (HP:0001946)1.57039259
190Gait imbalance (HP:0002141)1.55643720
191Esotropia (HP:0000565)1.55189746
192Aplasia/Hypoplasia of the ulna (HP:0006495)1.54150968
193Abnormality of the renal medulla (HP:0100957)1.52504998
194Poikilocytosis (HP:0004447)1.51540572
195Congenital primary aphakia (HP:0007707)1.51323380
196Intestinal atresia (HP:0011100)1.50971068
197Hypoplasia of the ulna (HP:0003022)1.50586794
198Abnormality of sodium homeostasis (HP:0010931)1.50285655

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.98372920
2* PHKG14.03265330
3PINK13.64283320
4MKNK23.44779746
5TTN3.02381476
6TLK12.96203160
7NLK2.86350110
8MAPK152.59546227
9MAP4K22.02170626
10CASK10.8310047
11MAP2K61.92298451
12MAPKAPK31.91476339
13PKN11.90465470
14MKNK11.79465831
15DYRK31.77882128
16BMPR1B1.70430520
17CDK121.70068071
18ADRBK21.68216277
19CSNK1G11.66211572
20PRKAA21.65169706
21FGFR21.61527549
22TRPM71.54832065
23MAP3K11.51360058
24PAK11.47966992
25MUSK1.47121430
26NUAK11.45639287
27PAK21.45127030
28SRPK11.42899310
29ICK1.38240740
30IKBKE1.36981367
31BLK1.36152829
32NME11.32252370
33GRK11.29092134
34FES1.27974828
35DYRK21.27305203
36WNK31.25607883
37FER1.23066612
38IRAK11.22574239
39HIPK21.21524984
40MAPK121.18843461
41DYRK1A1.17499401
42CAMK2B1.14145541
43CAMK2G1.13126002
44MAP3K21.12360296
45ILK1.12196253
46DAPK31.09308422
47ERBB31.09008235
48LIMK11.08081904
49EIF2AK31.06308871
50OXSR11.03897346
51CSNK1A1L1.00361130
52ZAK0.99221173
53TIE10.99167672
54CAMK2D0.98630257
55CAMK1G0.98272481
56ACVR1B0.95200348
57IRAK40.91986957
58TBK10.91461867
59IRAK20.89434113
60RPS6KA40.88413083
61YES10.88343858
62CLK10.86107897
63MAPK130.85691335
64CDK70.84991435
65STK160.81649488
66BRD40.80421443
67MAP2K40.79099904
68PRKAA10.77375058
69EPHA20.77121596
70WNK40.76045499
71CAMK1D0.76025778
72MAP2K30.75950642
73MAP3K70.75935095
74CDC70.75699703
75VRK20.75564067
76PIK3CG0.74958111
77IRAK30.71163137
78CSNK1G30.70448885
79ERBB40.69549048
80PLK20.69166393
81CDK40.65318646
82DYRK1B0.63884867
83PTK2B0.62129328
84PAK30.62036413
85PRKCE0.61883879
86EIF2AK20.61820603
87IKBKB0.60765970
88MAP3K120.60092050
89MAP3K40.59106054
90CCNB10.58775324
91TNK20.58376130
92MAPK110.56915781
93FGFR30.56657691
94PNCK0.56191393
95BCKDK0.54570283
96GSK3A0.53983648
97PIK3CA0.53347276
98CSK0.53111832
99STK390.51599174
100CDK30.51323941
101MAPK100.51308574
102STK110.50986328
103TXK0.50653063
104NTRK30.49810012
105CSNK1D0.49528808
106ROCK10.49299408
107TNIK0.48727103
108* PRKACA0.48073701
109STK38L0.47690965
110PBK0.47030911
111PRKD10.47027493
112FGR0.45314829
113CSNK1G20.44719352
114VRK10.44371147
115MAP3K30.43959389
116RPS6KA50.43581921
117UHMK10.43187116
118CSNK1E0.42772483
119EIF2AK10.41945501
120CDK90.40899739
121AKT30.40422585
122ADRBK10.38997270
123SGK2230.37892514
124SGK4940.37892514
125TGFBR20.37618777
126PRKCQ0.37334310
127STK30.37070941
128MAP2K10.37008248
129AURKA0.36844872
130MAPKAPK50.36789205
131CAMK40.36378274
132DAPK20.35592158
133* PRKG10.35400625
134CAMK2A0.34521101
135PRKCI0.34329453
136MAP2K20.34249634
137KIT0.33085203
138AKT20.32258112
139SGK10.31361106
140ERBB20.31135471
141TAOK30.31045106
142MST40.30809271
143OBSCN0.30690020
144PDK20.30576119
145PRKD20.30510972
146ROCK20.29902231
147TESK20.29566481
148PRKCG0.28512075
149INSRR0.27890245
150SGK20.27712296
151MARK30.27488662
152CSNK2A20.26564620
153STK240.26137385
154CAMK10.25501027
155PRKCA0.25474839
156NEK10.25364971
157MYLK0.24994603
158PLK30.22956583
159AURKB0.22760063
160MAPK70.22215817
161PRPF4B0.22150303
162CSNK1A10.20401535
163* PHKG20.19476711

Predicted pathways (KEGG)

RankGene SetZ-score
1Olfactory transduction_Homo sapiens_hsa047408.33054490
2Phototransduction_Homo sapiens_hsa047444.60627534
3Oxidative phosphorylation_Homo sapiens_hsa001903.55408476
4Parkinsons disease_Homo sapiens_hsa050122.86292581
5Sulfur relay system_Homo sapiens_hsa041222.82331429
6Other glycan degradation_Homo sapiens_hsa005112.76880443
7Circadian rhythm_Homo sapiens_hsa047102.38773885
8Nitrogen metabolism_Homo sapiens_hsa009102.35100946
9Butanoate metabolism_Homo sapiens_hsa006502.32322262
10Alzheimers disease_Homo sapiens_hsa050102.22394973
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.20225883
12Histidine metabolism_Homo sapiens_hsa003402.16854345
13RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.14577174
14Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.03951892
15Propanoate metabolism_Homo sapiens_hsa006402.00793316
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.99551670
17Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.96570416
18Folate biosynthesis_Homo sapiens_hsa007901.95021127
19Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.94745001
20Sulfur metabolism_Homo sapiens_hsa009201.85073136
21Fanconi anemia pathway_Homo sapiens_hsa034601.81702094
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.71427830
23Primary bile acid biosynthesis_Homo sapiens_hsa001201.71086190
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.69243503
25Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.64936172
26Sphingolipid metabolism_Homo sapiens_hsa006001.63100540
27Complement and coagulation cascades_Homo sapiens_hsa046101.60166072
28Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.56566642
29Dilated cardiomyopathy_Homo sapiens_hsa054141.54421182
30Spliceosome_Homo sapiens_hsa030401.53409914
31Axon guidance_Homo sapiens_hsa043601.49613514
32Melanogenesis_Homo sapiens_hsa049161.45875592
33Fatty acid elongation_Homo sapiens_hsa000621.45633246
34Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.45271968
35Notch signaling pathway_Homo sapiens_hsa043301.44411290
36Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.41804107
37Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.37544635
38beta-Alanine metabolism_Homo sapiens_hsa004101.33821900
39GnRH signaling pathway_Homo sapiens_hsa049121.33198515
40Taste transduction_Homo sapiens_hsa047421.27264578
41Protein export_Homo sapiens_hsa030601.24761624
42Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.23908016
43Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.21082988
44Regulation of autophagy_Homo sapiens_hsa041401.20552505
45Collecting duct acid secretion_Homo sapiens_hsa049661.19636081
46Fatty acid degradation_Homo sapiens_hsa000711.16715104
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.16391253
48Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.15987614
49Type I diabetes mellitus_Homo sapiens_hsa049401.15145507
50ABC transporters_Homo sapiens_hsa020101.11232645
51Linoleic acid metabolism_Homo sapiens_hsa005911.10208861
52Maturity onset diabetes of the young_Homo sapiens_hsa049501.08254181
53One carbon pool by folate_Homo sapiens_hsa006701.06584965
54Arachidonic acid metabolism_Homo sapiens_hsa005901.01322580
55Fatty acid metabolism_Homo sapiens_hsa012121.00717721
56Oxytocin signaling pathway_Homo sapiens_hsa049211.00188638
57Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.00043029
582-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.98326785
59Hepatitis C_Homo sapiens_hsa051600.96761494
60Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.96258963
61alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.96089247
62Pyruvate metabolism_Homo sapiens_hsa006200.93640581
63Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.92899356
64RNA polymerase_Homo sapiens_hsa030200.91483847
65Ether lipid metabolism_Homo sapiens_hsa005650.88990242
66* Glucagon signaling pathway_Homo sapiens_hsa049220.88823585
67Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87099828
68Systemic lupus erythematosus_Homo sapiens_hsa053220.86543590
69Arginine biosynthesis_Homo sapiens_hsa002200.85734344
70Staphylococcus aureus infection_Homo sapiens_hsa051500.85644275
71Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.79951413
72Caffeine metabolism_Homo sapiens_hsa002320.79434581
73Prostate cancer_Homo sapiens_hsa052150.77058188
74Insulin resistance_Homo sapiens_hsa049310.76748261
75Long-term depression_Homo sapiens_hsa047300.76148585
76Vascular smooth muscle contraction_Homo sapiens_hsa042700.75482446
77Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.75082979
78Starch and sucrose metabolism_Homo sapiens_hsa005000.74907814
79Circadian entrainment_Homo sapiens_hsa047130.74708426
80Vitamin digestion and absorption_Homo sapiens_hsa049770.74293902
81Transcriptional misregulation in cancer_Homo sapiens_hsa052020.73852853
82Retinol metabolism_Homo sapiens_hsa008300.73253182
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.73173669
84Arginine and proline metabolism_Homo sapiens_hsa003300.72625563
85MAPK signaling pathway_Homo sapiens_hsa040100.72320537
86Metabolic pathways_Homo sapiens_hsa011000.72088409
87Mineral absorption_Homo sapiens_hsa049780.71989020
88Peroxisome_Homo sapiens_hsa041460.71939684
89RNA degradation_Homo sapiens_hsa030180.71636659
90Ovarian steroidogenesis_Homo sapiens_hsa049130.71635067
91Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.71399517
92Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.70440217
93Carbon metabolism_Homo sapiens_hsa012000.70321365
94Alcoholism_Homo sapiens_hsa050340.68166009
95Purine metabolism_Homo sapiens_hsa002300.67846991
96Aldosterone synthesis and secretion_Homo sapiens_hsa049250.66526330
97Ribosome_Homo sapiens_hsa030100.66318298
98Basal transcription factors_Homo sapiens_hsa030220.66263359
99Bile secretion_Homo sapiens_hsa049760.65671257
100Tight junction_Homo sapiens_hsa045300.65243780
101Renal cell carcinoma_Homo sapiens_hsa052110.63865835
102Ras signaling pathway_Homo sapiens_hsa040140.61975870
103Gastric acid secretion_Homo sapiens_hsa049710.61703678
104Morphine addiction_Homo sapiens_hsa050320.60913999
105PPAR signaling pathway_Homo sapiens_hsa033200.58522337
106Amphetamine addiction_Homo sapiens_hsa050310.56814344
107Fructose and mannose metabolism_Homo sapiens_hsa000510.56466723
108Steroid hormone biosynthesis_Homo sapiens_hsa001400.55268932
109Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.54190366
110Intestinal immune network for IgA production_Homo sapiens_hsa046720.54110080
111Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.49853683
112Glutamatergic synapse_Homo sapiens_hsa047240.49814000
113Chemical carcinogenesis_Homo sapiens_hsa052040.49798072
114Basal cell carcinoma_Homo sapiens_hsa052170.49638641
115Proteasome_Homo sapiens_hsa030500.49056594
116MicroRNAs in cancer_Homo sapiens_hsa052060.48948064
117Cysteine and methionine metabolism_Homo sapiens_hsa002700.48323439
118Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.46450568
119cAMP signaling pathway_Homo sapiens_hsa040240.46003353
120* Calcium signaling pathway_Homo sapiens_hsa040200.45448209
121Tyrosine metabolism_Homo sapiens_hsa003500.44777743
122Glutathione metabolism_Homo sapiens_hsa004800.43922870
123Selenocompound metabolism_Homo sapiens_hsa004500.40283014
124Fatty acid biosynthesis_Homo sapiens_hsa000610.40122174
125Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.38705080
126DNA replication_Homo sapiens_hsa030300.38057983
127Vibrio cholerae infection_Homo sapiens_hsa051100.37697285
128Melanoma_Homo sapiens_hsa052180.37619187
129Vitamin B6 metabolism_Homo sapiens_hsa007500.36803453
130Pancreatic secretion_Homo sapiens_hsa049720.35507873
131Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35335308
132Cardiac muscle contraction_Homo sapiens_hsa042600.34556147
133Hepatitis B_Homo sapiens_hsa051610.34369591
134Huntingtons disease_Homo sapiens_hsa050160.34302251
135Serotonergic synapse_Homo sapiens_hsa047260.34248213
136mRNA surveillance pathway_Homo sapiens_hsa030150.32521523
137Insulin secretion_Homo sapiens_hsa049110.31864611
138Tryptophan metabolism_Homo sapiens_hsa003800.31497525
139cGMP-PKG signaling pathway_Homo sapiens_hsa040220.31489766
140* Insulin signaling pathway_Homo sapiens_hsa049100.31009493
141Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.30821280
142Dopaminergic synapse_Homo sapiens_hsa047280.30608212
143Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.30151658
144AMPK signaling pathway_Homo sapiens_hsa041520.28936558
145Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.28447200
146Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.27817901
147GABAergic synapse_Homo sapiens_hsa047270.26605916
148Salivary secretion_Homo sapiens_hsa049700.26175311
149Renin secretion_Homo sapiens_hsa049240.26150158
150Prion diseases_Homo sapiens_hsa050200.26038098
151Gap junction_Homo sapiens_hsa045400.25302466
152Dorso-ventral axis formation_Homo sapiens_hsa043200.24469593
153Homologous recombination_Homo sapiens_hsa034400.24441697
154Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.21842496
155Pyrimidine metabolism_Homo sapiens_hsa002400.21519719
156Adipocytokine signaling pathway_Homo sapiens_hsa049200.18717051

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