PHKG2

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: Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sperm-egg recognition (GO:0035036)9.62199371
2axonemal dynein complex assembly (GO:0070286)9.54085153
3multicellular organism reproduction (GO:0032504)9.46253301
4epithelial cilium movement (GO:0003351)9.40185651
5acrosome assembly (GO:0001675)9.30759369
6cell wall macromolecule catabolic process (GO:0016998)8.87946356
7cell wall macromolecule metabolic process (GO:0044036)8.87946356
8plasma membrane fusion (GO:0045026)8.79738331
9spermatid development (GO:0007286)8.69787173
10cell-cell recognition (GO:0009988)8.67876087
11binding of sperm to zona pellucida (GO:0007339)8.67440534
12motile cilium assembly (GO:0044458)8.28168708
13piRNA metabolic process (GO:0034587)8.14116342
14cilium movement (GO:0003341)7.92221050
15regulation of cilium movement (GO:0003352)7.84797023
16reproduction (GO:0000003)7.83217979
17male meiosis (GO:0007140)7.10458473
18epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.07720402
19sperm capacitation (GO:0048240)6.77170402
20single fertilization (GO:0007338)6.70211730
21DNA methylation involved in gamete generation (GO:0043046)6.69415559
22synaptonemal complex organization (GO:0070193)6.41274970
23organic cation transport (GO:0015695)6.30588853
24synaptonemal complex assembly (GO:0007130)6.15404564
25negative regulation of inclusion body assembly (GO:0090084)5.92376985
26spermatogenesis (GO:0007283)5.68325073
27male gamete generation (GO:0048232)5.66097492
28fertilization (GO:0009566)5.63753528
29male meiosis I (GO:0007141)5.61820000
30microtubule depolymerization (GO:0007019)5.54861802
31gamete generation (GO:0007276)5.18705311
32calcium ion-dependent exocytosis (GO:0017156)4.99777169
33germ cell development (GO:0007281)4.75322371
34eyelid development in camera-type eye (GO:0061029)4.72411021
35centriole replication (GO:0007099)4.69547020
36regulation of inclusion body assembly (GO:0090083)4.66756662
37ventricular system development (GO:0021591)4.66218069
38cellular process involved in reproduction in multicellular organism (GO:0022412)4.60346685
39meiosis I (GO:0007127)4.44370537
40chromosome organization involved in meiosis (GO:0070192)4.43277490
41centriole assembly (GO:0098534)4.27668415
42iron-sulfur cluster assembly (GO:0016226)4.25300976
43metallo-sulfur cluster assembly (GO:0031163)4.25300976
44regulation of microtubule-based movement (GO:0060632)4.21480414
45cell recognition (GO:0008037)4.19202561
46multicellular organismal reproductive process (GO:0048609)4.09954860
47meiotic nuclear division (GO:0007126)4.08380561
48seminiferous tubule development (GO:0072520)4.04995926
49spermatid nucleus differentiation (GO:0007289)4.03156252
50glycerol ether metabolic process (GO:0006662)3.99546968
51left/right pattern formation (GO:0060972)3.93291120
52positive regulation of protein kinase C signaling (GO:0090037)3.89489029
53protein localization to cilium (GO:0061512)3.86775020
54ether metabolic process (GO:0018904)3.77227988
55negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)3.74929993
56regulation of protein kinase A signaling (GO:0010738)3.71281265
57DNA deamination (GO:0045006)3.69056991
58base-excision repair, AP site formation (GO:0006285)3.62045034
59microtubule severing (GO:0051013)3.56527859
60protein polyglutamylation (GO:0018095)3.55965788
61fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.54931063
62genitalia morphogenesis (GO:0035112)3.54421839
63negative regulation of DNA-templated transcription, elongation (GO:0032785)3.53922402
64rRNA catabolic process (GO:0016075)3.49736111
65preassembly of GPI anchor in ER membrane (GO:0016254)3.46512802
66regulation of protein kinase C signaling (GO:0090036)3.43378781
67rRNA modification (GO:0000154)3.40731649
68meiotic cell cycle (GO:0051321)3.37790061
69protein complex biogenesis (GO:0070271)3.34453651
70multicellular organismal development (GO:0007275)3.32222412
71peptidyl-glutamic acid modification (GO:0018200)3.30545470
72mRNA modification (GO:0016556)3.28856416
73cytochrome complex assembly (GO:0017004)3.28831641
74positive regulation of antigen processing and presentation (GO:0002579)3.25146662
75rRNA methylation (GO:0031167)3.23600135
76ubiquinone biosynthetic process (GO:0006744)3.22326569
77phosphatidylethanolamine biosynthetic process (GO:0006646)3.18412132
78basic amino acid transport (GO:0015802)3.16722906
79respiratory chain complex IV assembly (GO:0008535)3.16122636
80tRNA modification (GO:0006400)3.15552427
81mitochondrial respiratory chain complex I assembly (GO:0032981)3.10557163
82NADH dehydrogenase complex assembly (GO:0010257)3.10557163
83mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.10557163
84alpha-linolenic acid metabolic process (GO:0036109)3.10459879
85amino-acid betaine transport (GO:0015838)3.09237789
86carnitine transport (GO:0015879)3.09237789
87mitochondrial respiratory chain complex assembly (GO:0033108)3.07927830
88carnitine transmembrane transport (GO:1902603)3.04817464
89mitochondrion degradation (GO:0000422)3.03754889
90protein K11-linked deubiquitination (GO:0035871)3.03245197
91GDP-mannose metabolic process (GO:0019673)3.03213490
92regulation of cilium assembly (GO:1902017)3.00039291
93cilium organization (GO:0044782)2.99665879
94purine deoxyribonucleotide catabolic process (GO:0009155)2.96263991
95synapsis (GO:0007129)2.94677185
96mannosylation (GO:0097502)2.94383355
97response to misfolded protein (GO:0051788)2.93620164
98pseudouridine synthesis (GO:0001522)2.92664987
99cilium assembly (GO:0042384)2.91180474
100indole-containing compound catabolic process (GO:0042436)2.90639319
101indolalkylamine catabolic process (GO:0046218)2.90639319
102tryptophan catabolic process (GO:0006569)2.90639319
103behavioral response to nicotine (GO:0035095)2.90146752
104positive regulation of glycolytic process (GO:0045821)2.89835921
105phosphatidylethanolamine metabolic process (GO:0046337)2.87684794
106centrosome duplication (GO:0051298)2.81703099
107peptidyl-histidine modification (GO:0018202)2.80597072
108DNA packaging (GO:0006323)2.79810187
109axoneme assembly (GO:0035082)2.78969751
110DNA methylation (GO:0006306)2.78649859
111DNA alkylation (GO:0006305)2.78649859
112microtubule polymerization or depolymerization (GO:0031109)2.78172563
113quinone biosynthetic process (GO:1901663)2.77300033
114chaperone-mediated protein complex assembly (GO:0051131)2.74692488
115regulation of spindle checkpoint (GO:0090231)2.73317078
116chromosome condensation (GO:0030261)2.71175066
117single strand break repair (GO:0000012)2.69372389
118alditol metabolic process (GO:0019400)2.68757201
119regulation of mast cell degranulation (GO:0043304)2.67517370
120regulation of antigen processing and presentation (GO:0002577)2.65433401
121microtubule-based movement (GO:0007018)2.64009272
122deoxyribonucleotide catabolic process (GO:0009264)2.63512431
123ubiquinone metabolic process (GO:0006743)2.63113554
124GTP biosynthetic process (GO:0006183)2.61980276
125calcium ion import (GO:0070509)2.60671429
126regulation of protein polyubiquitination (GO:1902914)2.59839859
127fatty acid elongation (GO:0030497)2.59578275
128GPI anchor biosynthetic process (GO:0006506)2.59319473
129C-terminal protein lipidation (GO:0006501)2.56976077
130regulation of meiosis I (GO:0060631)2.56302068
131cellular component assembly involved in morphogenesis (GO:0010927)2.55257049
132sequestering of actin monomers (GO:0042989)2.54972809
133linoleic acid metabolic process (GO:0043651)2.54478732
134cellular ketone body metabolic process (GO:0046950)2.54350572
135L-fucose metabolic process (GO:0042354)2.54249226
136L-fucose catabolic process (GO:0042355)2.54249226
137fucose catabolic process (GO:0019317)2.54249226
138GPI anchor metabolic process (GO:0006505)2.53602084
139regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.53483684
140ribosomal small subunit biogenesis (GO:0042274)2.53310040
141deoxyribose phosphate catabolic process (GO:0046386)2.50262430
142regulation of nuclear cell cycle DNA replication (GO:0033262)2.50199778
143left/right axis specification (GO:0070986)2.49079348
144phosphatidylglycerol biosynthetic process (GO:0006655)2.48907247
145tRNA processing (GO:0008033)2.48355640
146regulation of dendritic cell antigen processing and presentation (GO:0002604)2.47375749
147ATP synthesis coupled proton transport (GO:0015986)2.46801325
148energy coupled proton transport, down electrochemical gradient (GO:0015985)2.46801325
149negative regulation of cell killing (GO:0031342)2.44808416
150negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.44808416
151purinergic nucleotide receptor signaling pathway (GO:0035590)2.42100934
152ncRNA catabolic process (GO:0034661)2.40254991
153negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.39274208
154negative regulation of innate immune response (GO:0045824)2.37483863
155mast cell degranulation (GO:0043303)2.37267423
156mast cell activation involved in immune response (GO:0002279)2.37267423
157opioid receptor signaling pathway (GO:0038003)2.35785938
158misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.34871150
159NAD biosynthetic process (GO:0009435)2.34383829
160protein insertion into membrane (GO:0051205)2.34241806
161regulation of mast cell activation (GO:0033003)2.32480091
162purine deoxyribonucleotide metabolic process (GO:0009151)2.32307390
163C-terminal protein amino acid modification (GO:0018410)2.32075437
164regulation of mast cell activation involved in immune response (GO:0033006)2.31792475
165response to peptidoglycan (GO:0032494)2.29742499
166negative regulation of telomere maintenance (GO:0032205)2.29482526
167positive regulation of CREB transcription factor activity (GO:0032793)2.29472662
168autophagic vacuole fusion (GO:0000046)2.28495872
169negative regulation of B cell apoptotic process (GO:0002903)2.27450582
170positive regulation of protein homooligomerization (GO:0032464)2.26914429
171antigen processing and presentation of endogenous antigen (GO:0019883)2.25024497
172regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)2.24817978
173positive regulation of protein homodimerization activity (GO:0090073)2.23696355
174regulation of hydrogen peroxide metabolic process (GO:0010310)2.23549943
175chaperone-mediated protein transport (GO:0072321)2.23453728
176positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.21956076
177UTP biosynthetic process (GO:0006228)2.21945027
178ketone body metabolic process (GO:1902224)2.20267247
179DNA replication checkpoint (GO:0000076)2.20238128
180regulation of autophagic vacuole assembly (GO:2000785)2.19993025
181RNA modification (GO:0009451)2.18963493
182tRNA methylation (GO:0030488)2.18283863
183mitochondrial calcium ion transport (GO:0006851)2.17743127
184sperm motility (GO:0030317)12.6393389
185fusion of sperm to egg plasma membrane (GO:0007342)11.6622639
186cilium or flagellum-dependent cell motility (GO:0001539)11.0673946
187acrosome reaction (GO:0007340)10.9336936

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse7.65547157
2EZH2_22144423_ChIP-Seq_EOC_Human6.37200543
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.97976014
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.41525916
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.00315774
6CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.70736681
7FLI1_27457419_Chip-Seq_LIVER_Mouse2.59411197
8ELF1_17652178_ChIP-ChIP_JURKAT_Human2.59162643
9VDR_21846776_ChIP-Seq_THP-1_Human2.43564103
10IRF8_22096565_ChIP-ChIP_GC-B_Human2.43016588
11VDR_22108803_ChIP-Seq_LS180_Human2.32184727
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.31124664
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.26964961
14PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.25270700
15PCGF2_27294783_Chip-Seq_ESCs_Mouse2.22936584
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.22264716
17BCL6_27268052_Chip-Seq_Bcells_Human2.19413910
18TAF15_26573619_Chip-Seq_HEK293_Human2.19183235
19P68_20966046_ChIP-Seq_HELA_Human2.18261764
20ELF1_20517297_ChIP-Seq_JURKAT_Human2.15469536
21GABP_17652178_ChIP-ChIP_JURKAT_Human2.11290429
22NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.10213834
23EBNA2_21746931_ChIP-Seq_IB4-LCL_Human2.04444070
24CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.99187423
25TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96708766
26BCOR_27268052_Chip-Seq_Bcells_Human1.93594069
27KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.91262806
28E2F1_20622854_ChIP-Seq_HELA_Human1.90287861
29EST1_17652178_ChIP-ChIP_JURKAT_Human1.89696554
30* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.87580596
31HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.87224129
32CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.86813563
33NFE2_27457419_Chip-Seq_LIVER_Mouse1.84390927
34PHF8_20622854_ChIP-Seq_HELA_Human1.83723412
35EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.81792307
36TET1_21451524_ChIP-Seq_MESCs_Mouse1.81074028
37GABP_19822575_ChIP-Seq_HepG2_Human1.80565056
38RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.78438757
39YY1_22570637_ChIP-Seq_MALME-3M_Human1.78351067
40VDR_23849224_ChIP-Seq_CD4+_Human1.77542422
41SUZ12_27294783_Chip-Seq_NPCs_Mouse1.77179209
42* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.76625755
43MAF_26560356_Chip-Seq_TH2_Human1.76173907
44ERA_21632823_ChIP-Seq_H3396_Human1.73126912
45CIITA_25753668_ChIP-Seq_RAJI_Human1.73063042
46* LXR_22292898_ChIP-Seq_THP-1_Human1.71911448
47FOXP3_21729870_ChIP-Seq_TREG_Human1.71364973
48CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.69988215
49KDM5A_27292631_Chip-Seq_BREAST_Human1.68700526
50YY1_21170310_ChIP-Seq_MESCs_Mouse1.68171292
51BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.67247545
52CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.67005769
53SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.64863938
54PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.61693582
55FOXP1_21924763_ChIP-Seq_HESCs_Human1.60648286
56E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.59619698
57SRF_21415370_ChIP-Seq_HL-1_Mouse1.58518973
58SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.58363863
59* XRN2_22483619_ChIP-Seq_HELA_Human1.57564094
60P300_27268052_Chip-Seq_Bcells_Human1.57148216
61CTCF_20526341_ChIP-Seq_ESCs_Human1.55107925
62SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.53937767
63FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.52947248
64PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.51587312
65* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.50558567
66SA1_27219007_Chip-Seq_ERYTHROID_Human1.47766488
67PCGF2_27294783_Chip-Seq_NPCs_Mouse1.46693853
68EGR1_23403033_ChIP-Seq_LIVER_Mouse1.46188413
69REST_21632747_ChIP-Seq_MESCs_Mouse1.45878400
70STAT1_17558387_ChIP-Seq_HELA_Human1.45460916
71KDM2B_26808549_Chip-Seq_REH_Human1.44976014
72CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.44473131
73THAP11_20581084_ChIP-Seq_MESCs_Mouse1.44461708
74E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.44319590
75IKZF1_21737484_ChIP-ChIP_HCT116_Human1.42151283
76IRF8_21731497_ChIP-ChIP_J774_Mouse1.39999294
77SA1_27219007_Chip-Seq_Bcells_Human1.38935881
78CTCF_26484167_Chip-Seq_Bcells_Mouse1.38239353
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.38117237
80UTX_26944678_Chip-Seq_JUKART_Human1.38086819
81BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.35003715
82RAC3_21632823_ChIP-Seq_H3396_Human1.34335689
83GATA3_21867929_ChIP-Seq_CD8_Mouse1.33519390
84TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.33508780
85ZFP57_27257070_Chip-Seq_ESCs_Mouse1.33429539
86* SMC4_20622854_ChIP-Seq_HELA_Human1.33380871
87EZH2_27294783_Chip-Seq_NPCs_Mouse1.31123128
88NOTCH1_21737748_ChIP-Seq_TLL_Human1.31048875
89SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.30691958
90RARB_24833708_ChIP-Seq_LIVER_Mouse1.30530352
91RARA_24833708_ChIP-Seq_LIVER_Mouse1.30145967
92WDR5_24793694_ChIP-Seq_LNCAP_Human1.29034884
93VDR_24763502_ChIP-Seq_THP-1_Human1.28832924
94TAL1_26923725_Chip-Seq_HPCs_Mouse1.28397220
95* VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.27843393
96KAP1_22055183_ChIP-Seq_ESCs_Mouse1.25723373
97MAF_26560356_Chip-Seq_TH1_Human1.24346286
98NANOG_20526341_ChIP-Seq_ESCs_Human1.23566879
99TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.22361398
100ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.22328097
101ELK4_26923725_Chip-Seq_MESODERM_Mouse1.22113311
102SPI1_23547873_ChIP-Seq_NB4_Human1.22025272
103RXR_22158963_ChIP-Seq_LIVER_Mouse1.21717578
104P53_21459846_ChIP-Seq_SAOS-2_Human1.21205946
105LXR_22158963_ChIP-Seq_LIVER_Mouse1.20759826
106RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.20663209
107RAD21_21589869_ChIP-Seq_MESCs_Mouse1.20338676
108CBX2_27304074_Chip-Seq_ESCs_Mouse1.19947481
109EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.19784492
110DCP1A_22483619_ChIP-Seq_HELA_Human1.19736275
111MYC_22102868_ChIP-Seq_BL_Human1.19379962
112P300_18555785_Chip-Seq_ESCs_Mouse1.19069144
113FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18714807
114* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.18461631
115CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.18375037
116OCT4_20526341_ChIP-Seq_ESCs_Human1.18219869
117GATA1_26923725_Chip-Seq_HPCs_Mouse1.18129716
118SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.17948356
119CRX_20693478_ChIP-Seq_RETINA_Mouse1.17378242
120RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.17238335
121CTCF_21964334_Chip-Seq_Bcells_Human1.15888728
122ESRRB_18555785_Chip-Seq_ESCs_Mouse1.15320680
123* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.15061847
124* TTF2_22483619_ChIP-Seq_HELA_Human1.15053133
125CTCF_21964334_ChIP-Seq_BJAB-B_Human1.14313296
126IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.13962259
127CBP_20019798_ChIP-Seq_JUKART_Human1.13962259
128NANOG_18555785_Chip-Seq_ESCs_Mouse1.13915330
129P53_22387025_ChIP-Seq_ESCs_Mouse1.13774407
130PU.1_20513432_ChIP-Seq_Bcells_Mouse1.13752796
131CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.13716074
132GATA3_21867929_ChIP-Seq_TH1_Mouse1.13305899
133BP1_19119308_ChIP-ChIP_Hs578T_Human1.12966575
134CTCF_18555785_ChIP-Seq_MESCs_Mouse1.12418459
135STAT6_21828071_ChIP-Seq_BEAS2B_Human1.12364118
136MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.12051648
137RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.11559635
138SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.11404174
139RUNX1_27457419_Chip-Seq_LIVER_Mouse1.11126656
140KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.10973045
141MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.10433757
142FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09672292
143SOX2_22085726_ChIP-Seq_NPCs_Mouse1.09645474
144* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.09621516
145OCT4_21477851_ChIP-Seq_ESCs_Mouse1.08986166
146FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08954056
147KLF4_18555785_Chip-Seq_ESCs_Mouse1.08931162
148RNF2_27304074_Chip-Seq_NSC_Mouse1.08185103
149SOX2_21211035_ChIP-Seq_LN229_Human1.07910858
150CTCF_27219007_Chip-Seq_ERYTHROID_Human1.07779842
151PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07744109
152SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.07168791
153TAF2_19829295_ChIP-Seq_ESCs_Human1.06873243
154OCT4_18555785_Chip-Seq_ESCs_Mouse1.05937425
155EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05918931
156* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.05795381
157OCT4_19829295_ChIP-Seq_ESCs_Human1.05036416
158PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.03844300
159SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.02512730
160PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02244145
161LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.02206401
162IRF1_19129219_ChIP-ChIP_H3396_Human1.01497236
163STAT3_18555785_Chip-Seq_ESCs_Mouse1.01194265
164CTBP2_25329375_ChIP-Seq_LNCAP_Human1.00953729
165SUZ12_18555785_Chip-Seq_ESCs_Mouse1.00462230
166PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00428285
167PU1_27457419_Chip-Seq_LIVER_Mouse0.99977828
168CMYC_18555785_Chip-Seq_ESCs_Mouse0.99438437
169TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99365244
170POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99365244
171CTCF_18555785_Chip-Seq_ESCs_Mouse0.98486047
172NMYC_18555785_Chip-Seq_ESCs_Mouse0.97386386
173PPARA_22158963_ChIP-Seq_LIVER_Mouse0.97298183
174TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.96985840
175NFYB_21822215_ChIP-Seq_K562_Human0.96067458
176E2F1_18555785_Chip-Seq_ESCs_Mouse0.94704646
177RXRA_24833708_ChIP-Seq_LIVER_Mouse0.94614284
178LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.93298001
179OCT1_27270436_Chip-Seq_PROSTATE_Human0.92731473
180SOX2_18555785_Chip-Seq_ESCs_Mouse0.92254614
181ZFX_18555785_Chip-Seq_ESCs_Mouse0.92130932
182SMAD1_18555785_Chip-Seq_ESCs_Mouse0.91836481
183MYC_27129775_Chip-Seq_CORNEA_Mouse0.91663804
184MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.91483335
185SUZ12_27294783_Chip-Seq_ESCs_Mouse0.91460419
186SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.91389602
187TBL1_22424771_ChIP-Seq_293T_Human0.91142788
188TCF4_23295773_ChIP-Seq_U87_Human0.90911403
189CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.90505148
190CTCF_27219007_Chip-Seq_Bcells_Human0.89858510
191ZNF274_21170338_ChIP-Seq_K562_Hela0.89817808
192PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.88904510

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive4.44591353
2MP0003136_yellow_coat_color4.40768502
3MP0001929_abnormal_gametogenesis3.88085587
4MP0004381_abnormal_hair_follicle3.59748799
5MP0003806_abnormal_nucleotide_metabolis3.44363380
6MP0005409_darkened_coat_color3.43197787
7MP0008877_abnormal_DNA_methylation2.87486488
8MP0001853_heart_inflammation2.79999677
9MP0002210_abnormal_sex_determination2.51933122
10MP0002161_abnormal_fertility/fecundity2.41021266
11MP0005377_hearing/vestibular/ear_phenot2.34030701
12MP0003878_abnormal_ear_physiology2.34030701
13MP0005670_abnormal_white_adipose2.30770150
14MP0005174_abnormal_tail_pigmentation2.29063122
15MP0002139_abnormal_hepatobiliary_system2.22586762
16MP0001188_hyperpigmentation2.16596222
17MP0002653_abnormal_ependyma_morphology2.11827008
18MP0000015_abnormal_ear_pigmentation2.11667645
19MP0000685_abnormal_immune_system2.09844757
20MP0001145_abnormal_male_reproductive2.06527738
21MP0003787_abnormal_imprinting2.05706547
22MP0005410_abnormal_fertilization11.6055677
23MP0009046_muscle_twitch1.93688579
24MP0003172_abnormal_lysosome_physiology1.88099152
25MP0005058_abnormal_lysosome_morphology1.78581366
26MP0005365_abnormal_bile_salt1.78237366
27MP0005310_abnormal_salivary_gland1.77376816
28MP0000653_abnormal_sex_gland1.75373796
29MP0005085_abnormal_gallbladder_physiolo1.73319884
30MP0002163_abnormal_gland_morphology1.69734799
31MP0006036_abnormal_mitochondrial_physio1.67597908
32MP0003045_fibrosis1.61201144
33MP0001800_abnormal_humoral_immune1.60998900
34MP0005360_urolithiasis1.58207537
35MP0005025_abnormal_response_to1.58079635
36MP0009278_abnormal_bone_marrow1.52761291
37MP0001790_abnormal_immune_system1.52527274
38MP0005387_immune_system_phenotype1.52527274
39MP0002723_abnormal_immune_serum1.52254434
40MP0002095_abnormal_skin_pigmentation1.49786442
41MP0002160_abnormal_reproductive_system1.44984204
42MP0002277_abnormal_respiratory_mucosa1.41292796
43MP0009333_abnormal_splenocyte_physiolog1.40159551
44MP0001819_abnormal_immune_cell1.38312669
45MP0002420_abnormal_adaptive_immunity1.37755132
46MP0002148_abnormal_hypersensitivity_rea1.34265899
47MP0008872_abnormal_physiological_respon1.34004363
48MP0005083_abnormal_biliary_tract1.33359189
49MP0003786_premature_aging1.30837831
50MP0002452_abnormal_antigen_presenting1.29802503
51MP0005075_abnormal_melanosome_morpholog1.28529482
52MP0001348_abnormal_lacrimal_gland1.27755987
53MP0006035_abnormal_mitochondrial_morpho1.23145706
54MP0005000_abnormal_immune_tolerance1.23108596
55MP0003123_paternal_imprinting1.23053203
56MP0002419_abnormal_innate_immunity1.22510032
57MP0005646_abnormal_pituitary_gland1.22491102
58MP0005379_endocrine/exocrine_gland_phen1.19897718
59MP0005551_abnormal_eye_electrophysiolog1.19637818
60MP0001905_abnormal_dopamine_level1.19214109
61MP0004883_abnormal_blood_vessel1.17954733
62MP0003693_abnormal_embryo_hatching1.17890079
63MP0005647_abnormal_sex_gland1.17056507
64MP0005423_abnormal_somatic_nervous1.16949689
65MP0004142_abnormal_muscle_tone1.15707284
66MP0001968_abnormal_touch/_nociception1.14036510
67MP0000716_abnormal_immune_system1.13530154
68MP0008995_early_reproductive_senescence1.13067822
69MP0001873_stomach_inflammation1.12315315
70MP0003011_delayed_dark_adaptation1.10711678
71MP0002405_respiratory_system_inflammati1.09710386
72MP0000858_altered_metastatic_potential1.08860692
73MP0003252_abnormal_bile_duct1.08642088
74MP0002398_abnormal_bone_marrow1.07322806
75MP0006138_congestive_heart_failure1.06793416
76MP0010329_abnormal_lipoprotein_level1.04399601
77MP0009379_abnormal_foot_pigmentation1.03743488
78MP0002736_abnormal_nociception_after1.02552484
79MP0002928_abnormal_bile_duct1.02523496
80MP0009764_decreased_sensitivity_to1.00714336
81MP0002282_abnormal_trachea_morphology0.99690733
82MP0002429_abnormal_blood_cell0.99226654
83MP0000689_abnormal_spleen_morphology0.99201428
84MP0002722_abnormal_immune_system0.96495082
85MP0002876_abnormal_thyroid_physiology0.95799761
86MP0008875_abnormal_xenobiotic_pharmacok0.94251339
87MP0005464_abnormal_platelet_physiology0.93856883
88MP0005645_abnormal_hypothalamus_physiol0.93371444
89MP0006292_abnormal_olfactory_placode0.92993883
90MP0001663_abnormal_digestive_system0.92293529
91MP0001845_abnormal_inflammatory_respons0.90435165
92MP0000566_synostosis0.90169191
93MP0000703_abnormal_thymus_morphology0.89721097
94MP0002822_catalepsy0.87566996
95MP0002092_abnormal_eye_morphology0.86896593
96MP0001486_abnormal_startle_reflex0.86345944
97MP0000920_abnormal_myelination0.85793006
98MP0002396_abnormal_hematopoietic_system0.85003366
99MP0010094_abnormal_chromosome_stability0.82853183
100MP0001545_abnormal_hematopoietic_system0.81196140
101MP0005397_hematopoietic_system_phenotyp0.81196140
102MP0002132_abnormal_respiratory_system0.78636279
103MP0000372_irregular_coat_pigmentation0.78425810
104MP0003866_abnormal_defecation0.77396919
105MP0005671_abnormal_response_to0.76172725
106MP0000681_abnormal_thyroid_gland0.75434766
107MP0004742_abnormal_vestibular_system0.75300180
108MP0001765_abnormal_ion_homeostasis0.75207282
109MP0001919_abnormal_reproductive_system0.74929087
110MP0001485_abnormal_pinna_reflex0.74861034
111MP0010155_abnormal_intestine_physiology0.74227988
112MP0000579_abnormal_nail_morphology0.73807941
113MP0003718_maternal_effect0.73207345
114MP0002638_abnormal_pupillary_reflex0.71584624
115MP0003724_increased_susceptibility_to0.71256399
116MP0001986_abnormal_taste_sensitivity0.70788340
117MP0000609_abnormal_liver_physiology0.70639797
118MP0003221_abnormal_cardiomyocyte_apopto0.70149285
119MP0005451_abnormal_body_composition0.70145830
120MP0005084_abnormal_gallbladder_morpholo0.69402915
121MP0002118_abnormal_lipid_homeostasis0.69359777
122MP0001340_abnormal_eyelid_morphology0.68209233
123MP0003959_abnormal_lean_body0.64690264
124MP0002067_abnormal_sensory_capabilities0.63975675
125MP0001299_abnormal_eye_distance/0.61341959
126MP0005595_abnormal_vascular_smooth0.60946982
127MP0005389_reproductive_system_phenotype0.60745532
128MP0003632_abnormal_nervous_system0.60445558
129MP0004019_abnormal_vitamin_homeostasis0.59685093
130MP0003436_decreased_susceptibility_to0.59150594
131MP0008569_lethality_at_weaning0.57530834
132MP0005636_abnormal_mineral_homeostasis0.57267484
133MP0001835_abnormal_antigen_presentation0.55757737
134MP0001764_abnormal_homeostasis0.54351731
135MP0002734_abnormal_mechanical_nocicepti0.54322651
136MP0009745_abnormal_behavioral_response0.54228129
137MP0001984_abnormal_olfaction0.53978867
138MP0005164_abnormal_response_to0.53807308
139MP0002735_abnormal_chemical_nociception0.52424835
140MP0005391_vision/eye_phenotype0.51490654
141MP0001324_abnormal_eye_pigmentation0.50507176
142MP0005332_abnormal_amino_acid0.50422336
143MP0008260_abnormal_autophagy0.49978796
144MP0003879_abnormal_hair_cell0.48811792
145MP0001970_abnormal_pain_threshold0.47573736
146MP0002102_abnormal_ear_morphology0.47158575
147MP0003646_muscle_fatigue0.45735444
148MP0003763_abnormal_thymus_physiology0.45528444
149MP0008469_abnormal_protein_level0.45436322
150MP0003448_altered_tumor_morphology0.44169632
151MP0002229_neurodegeneration0.43802274
152MP0008058_abnormal_DNA_repair0.42594805
153MP0002254_reproductive_system_inflammat0.41994930
154MP0009765_abnormal_xenobiotic_induced0.41581124
155MP0003633_abnormal_nervous_system0.41043439
156MP0003699_abnormal_female_reproductive0.40089503
157MP0004484_altered_response_of0.39439536
158MP0009785_altered_susceptibility_to0.39199263

Predicted human phenotypes

RankGene SetZ-score
1Abnormal sex determination (HP:0012244)7.80364413
2Sex reversal (HP:0012245)7.80364413
3Abnormal respiratory motile cilium morphology (HP:0005938)7.29693507
4Abnormal respiratory epithelium morphology (HP:0012253)7.29693507
5Abnormal respiratory motile cilium physiology (HP:0012261)7.27973868
6Abnormality of the axillary hair (HP:0100134)6.34437498
7Abnormality of secondary sexual hair (HP:0009888)6.34437498
8Rhinitis (HP:0012384)6.14192059
9Abnormal ciliary motility (HP:0012262)5.84485737
10Chronic bronchitis (HP:0004469)5.49563812
11Infertility (HP:0000789)5.37564630
12Nasal polyposis (HP:0100582)5.09782214
13Nephronophthisis (HP:0000090)4.33257154
14Abnormality of the nasal mucosa (HP:0000433)4.16433233
15Gonadal dysgenesis (HP:0000133)4.11573436
16Bronchitis (HP:0012387)3.92918368
17Testicular neoplasm (HP:0010788)3.87979410
18Bronchiectasis (HP:0002110)3.84039796
19Clitoromegaly (HP:0000057)3.39460156
20Congenital stationary night blindness (HP:0007642)3.36225728
21Abnormality of the renal medulla (HP:0100957)3.22568420
22Recurrent sinusitis (HP:0011108)3.17501581
23Recurrent otitis media (HP:0000403)3.07082289
24Abnormal rod and cone electroretinograms (HP:0008323)3.01482563
25Male infertility (HP:0003251)2.99108760
26Severe visual impairment (HP:0001141)2.95755382
27Impulsivity (HP:0100710)2.91076687
28Recurrent bronchitis (HP:0002837)2.88488073
29Stomatitis (HP:0010280)2.85893941
30Hypochromic anemia (HP:0001931)2.79289450
31Absent rod-and cone-mediated responses on ERG (HP:0007688)2.76088140
32Germ cell neoplasia (HP:0100728)2.74045727
33Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.72671992
34Alacrima (HP:0000522)2.70467079
35Increased neuronal autofluorescent lipopigment (HP:0002074)2.67078498
36Abnormal spermatogenesis (HP:0008669)2.65422496
37Renal Fanconi syndrome (HP:0001994)2.65191043
38Increased muscle lipid content (HP:0009058)2.64124774
39Birth length less than 3rd percentile (HP:0003561)2.64049289
40Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.61424914
41Decreased activity of mitochondrial respiratory chain (HP:0008972)2.61424914
42Elevated erythrocyte sedimentation rate (HP:0003565)2.61145371
43Male pseudohermaphroditism (HP:0000037)2.61110258
44Decreased electroretinogram (ERG) amplitude (HP:0000654)2.59871437
45Hepatocellular necrosis (HP:0001404)2.58291586
46Mitochondrial inheritance (HP:0001427)2.57453767
47Pancreatic cysts (HP:0001737)2.56687661
48Increased intramyocellular lipid droplets (HP:0012240)2.54198656
49Progressive microcephaly (HP:0000253)2.53343861
50Lipid accumulation in hepatocytes (HP:0006561)2.49253511
513-Methylglutaconic aciduria (HP:0003535)2.42943742
52Panhypogammaglobulinemia (HP:0003139)2.42421556
53Hepatic necrosis (HP:0002605)2.38475161
54Increased CSF lactate (HP:0002490)2.32070338
55Cholecystitis (HP:0001082)2.27471560
56Abnormal gallbladder physiology (HP:0012438)2.27471560
57Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.26328070
58Gonadotropin excess (HP:0000837)2.25691968
59Abnormal delayed hypersensitivity skin test (HP:0002963)2.23799106
60Absent thumb (HP:0009777)2.23503460
61Decreased lacrimation (HP:0000633)2.22311744
62Increased hepatocellular lipid droplets (HP:0006565)2.20618271
63Increased cerebral lipofuscin (HP:0011813)2.19074846
64Chronic obstructive pulmonary disease (HP:0006510)2.18232077
65Obstructive lung disease (HP:0006536)2.18232077
66Spastic tetraparesis (HP:0001285)2.18205854
67Methylmalonic aciduria (HP:0012120)2.18138236
68Abnormal number of erythroid precursors (HP:0012131)2.16072171
69Myositis (HP:0100614)2.15471947
70Increased serum lactate (HP:0002151)2.13883057
71Rib fusion (HP:0000902)2.13226573
72Congenital hepatic fibrosis (HP:0002612)2.12822205
73Abnormality of the clitoris (HP:0000056)2.12580355
74Bony spicule pigmentary retinopathy (HP:0007737)2.11434147
75Agammaglobulinemia (HP:0004432)2.11247027
76Tubulointerstitial nephritis (HP:0001970)2.10460748
77Dicarboxylic aciduria (HP:0003215)2.10311148
78Abnormality of dicarboxylic acid metabolism (HP:0010995)2.10311148
79Clumsiness (HP:0002312)2.06798223
80Microretrognathia (HP:0000308)2.04395880
81Type II lissencephaly (HP:0007260)2.02870840
82Aplasia/Hypoplasia of the sacrum (HP:0008517)2.01669291
83Patellar aplasia (HP:0006443)2.01261867
84Absent/shortened dynein arms (HP:0200106)10.4378966
85Dynein arm defect of respiratory motile cilia (HP:0012255)10.4378966
86Respiratory insufficiency due to defective ciliary clearance (HP:0200073)10.3856035
87Aplasia/Hypoplasia of the patella (HP:0006498)1.98948043
88Recurrent fungal infections (HP:0002841)1.98794274
89Abnormal protein glycosylation (HP:0012346)1.97204118
90Abnormal glycosylation (HP:0012345)1.97204118
91Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.97204118
92Abnormal protein N-linked glycosylation (HP:0012347)1.97204118
93* Lactic acidosis (HP:0003128)1.96606931
94Respiratory difficulties (HP:0002880)1.94867459
95Prolonged partial thromboplastin time (HP:0003645)1.94739767
96Joint hemorrhage (HP:0005261)1.94547038
97Obstructive sleep apnea (HP:0002870)1.94416200
98Granulocytopenia (HP:0001913)1.93476705
99Recurrent abscess formation (HP:0002722)1.90760683
100Stage 5 chronic kidney disease (HP:0003774)1.90336992
101Postaxial foot polydactyly (HP:0001830)1.89522288
102Type I transferrin isoform profile (HP:0003642)1.89441155
103Pustule (HP:0200039)1.89229301
104Decreased central vision (HP:0007663)1.86776576
105Abnormal mitochondria in muscle tissue (HP:0008316)1.86490046
106Large for gestational age (HP:0001520)1.86430761
107Recurrent cutaneous fungal infections (HP:0011370)1.85626169
108Chronic mucocutaneous candidiasis (HP:0002728)1.85626169
109Attenuation of retinal blood vessels (HP:0007843)1.83286665
110Hyperglycinuria (HP:0003108)1.83038508
111Female pseudohermaphroditism (HP:0010458)1.83027132
112Acute necrotizing encephalopathy (HP:0006965)1.82660131
113Acute encephalopathy (HP:0006846)1.82461073
114Intrahepatic cholestasis (HP:0001406)1.82310438
115Pancytopenia (HP:0001876)1.81642583
116Short chin (HP:0000331)1.81315818
117Abnormality of cells of the erythroid lineage (HP:0012130)1.81141953
118Abnormality of renal resorption (HP:0011038)1.79834629
119Severe combined immunodeficiency (HP:0004430)1.78208822
120Ketoacidosis (HP:0001993)1.78179388
121Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.78081507
122Abnormality of T cell physiology (HP:0011840)1.78039113
123Abnormality of midbrain morphology (HP:0002418)1.78011338
124Molar tooth sign on MRI (HP:0002419)1.78011338
125Fibular hypoplasia (HP:0003038)1.76655181
126Opisthotonus (HP:0002179)1.76585149
127Concave nail (HP:0001598)1.75762880
128Neoplasm of the adrenal cortex (HP:0100641)1.75453759
129Squamous cell carcinoma (HP:0002860)1.75230591
130Azoospermia (HP:0000027)1.73833451
131Polydipsia (HP:0001959)1.73777962
132Abnormal drinking behavior (HP:0030082)1.73777962
133Methylmalonic acidemia (HP:0002912)1.73661649
134Abnormality of dental color (HP:0011073)1.73575903
135Cerebellar dysplasia (HP:0007033)1.73161807
136True hermaphroditism (HP:0010459)1.72729911
137Hemorrhage of the eye (HP:0011885)1.71504838
138Heterotopia (HP:0002282)1.71424884
139Conjugated hyperbilirubinemia (HP:0002908)1.71337814
140Amelogenesis imperfecta (HP:0000705)1.71256334
141Encephalitis (HP:0002383)1.69607858
142Medial flaring of the eyebrow (HP:0010747)1.69545021
143Abolished electroretinogram (ERG) (HP:0000550)1.68856947
144Hypoplasia of the pons (HP:0012110)1.66181551
145Vacuolated lymphocytes (HP:0001922)1.65345912
146Abnormality of the renal cortex (HP:0011035)1.64050093
147Optic nerve hypoplasia (HP:0000609)1.59934360
148Decreased muscle mass (HP:0003199)1.59656638
149Gaze-evoked nystagmus (HP:0000640)1.59320052
150Short tibia (HP:0005736)1.57323130
151Supernumerary spleens (HP:0009799)1.55971751
152Tubulointerstitial abnormality (HP:0001969)1.55787638
153Hypercholesterolemia (HP:0003124)1.50817174
154Absent speech (HP:0001344)1.48136730
155Primary adrenal insufficiency (HP:0008207)1.47533478
156Aplasia/Hypoplasia of the tibia (HP:0005772)1.47014138
157Dyschromatopsia (HP:0007641)1.46854009
158Complement deficiency (HP:0004431)1.45472021
159Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.45039130
160Sleep apnea (HP:0010535)1.41100335
161Abnormality of the lower motor neuron (HP:0002366)1.39792029
162Hypoplasia of the capital femoral epiphysis (HP:0003090)1.38713339
163Oculomotor apraxia (HP:0000657)1.34733185
164Polycystic ovaries (HP:0000147)1.33637493
165Tubular atrophy (HP:0000092)1.33220772
166Impaired proprioception (HP:0010831)1.32882058
167Pancreatic fibrosis (HP:0100732)1.32546653
168Chronic sinusitis (HP:0011109)1.32333048
169Bell-shaped thorax (HP:0001591)1.32220124
170Alveolar cell carcinoma (HP:0006519)1.31801614
171Median cleft lip (HP:0000161)1.28915694
172Cystic liver disease (HP:0006706)1.27838970
173J-shaped sella turcica (HP:0002680)1.27744699
174Amyotrophic lateral sclerosis (HP:0007354)1.27441852
175Nephropathy (HP:0000112)1.26113506
176Optic disc pallor (HP:0000543)1.25795541
177Bradycardia (HP:0001662)1.24719089
178Hemiparesis (HP:0001269)1.24555582
179Abnormality of monocarboxylic acid metabolism (HP:0010996)1.23596606
180Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.22426712
181Acanthocytosis (HP:0001927)1.22386817
182Abnormality of aromatic amino acid family metabolism (HP:0004338)1.21495425
183Hyperglycinemia (HP:0002154)1.21405272
184Renal dysplasia (HP:0000110)1.20823041
185Abnormality of saccadic eye movements (HP:0000570)1.19426942

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK8.21898989
2PDK45.37338927
3PDK35.37338927
4TESK13.87952049
5PRKD33.85063390
6ICK3.50935914
7ZAK3.43901903
8PDK23.40116953
9MAP4K23.05913889
10MAP3K12.87457451
11MKNK22.82627463
12PHKG22.75241295
13PHKG12.75241295
14GRK62.74772720
15VRK22.59625110
16FRK2.43458850
17NUAK12.14508379
18MAP3K112.04312666
19PNCK1.91056210
20SIK21.83423762
21BCKDK1.68039135
22NME21.54446460
23STK391.53905226
24IKBKB1.51897485
25PTK2B1.49587344
26WNK41.49133829
27PAK11.46991581
28PIK3CG1.42722266
29DYRK1B1.41941411
30ERN11.41419412
31NME11.39865617
32MAP2K21.29473412
33TLK11.23424579
34TRIB31.21199276
35BLK1.19730973
36MKNK11.18679004
37ACVR1B1.15459287
38IRAK11.12914859
39MARK31.12298459
40STK381.12217667
41IRAK21.11708819
42VRK11.07902769
43SMG11.07069326
44TNIK1.05491003
45MAPKAPK31.04481395
46INSRR1.01680588
47MUSK0.87174401
48RIPK40.83967937
49CAMKK10.81038902
50IRAK40.79715971
51PDK10.79609388
52ATR0.78003365
53KDR0.75735466
54TAOK30.74493794
55MAPK150.73741050
56RPS6KA60.73665139
57MAP2K30.72770001
58PINK10.72642026
59CAMKK20.72512923
60RPS6KA50.72316468
61SRPK10.70815905
62LYN0.69781951
63OXSR10.65899891
64HCK0.64466362
65TXK0.64294139
66PKN10.63597953
67FES0.62196934
68MAP4K10.61434165
69WNK10.61071624
70MAPK110.56997673
71BMPR1B0.55075683
72IKBKE0.54184777
73PIM20.54099381
74ITK0.53344562
75STK160.52908037
76MAP2K60.52866928
77YES10.50222397
78PRKCI0.49921693
79DYRK20.49310413
80NEK20.48472746
81TEC0.48457077
82TAOK10.48127217
83DAPK20.47929542
84DYRK1A0.47244569
85TESK20.46073879
86ERBB40.46047833
87JAK30.45654516
88CLK10.45243908
89CDC70.44096851
90CHUK0.44045762
91CAMK1G0.43672878
92LRRK20.43594578
93RPS6KA10.41591660
94AURKA0.40576784
95RPS6KL10.40106756
96RPS6KC10.40106756
97BRD40.39868166
98PAK20.38651331
99ZAP700.37008956
100PRKAA20.36928664
101MAP2K40.36453874
102CDK70.36030847
103CSNK1G30.35309703
104TBK10.35280720
105PDPK10.34856951
106MAP2K70.33742502
107MAP3K130.32573191
108PRKCD0.32488993
109PLK10.32404866
110TYK20.31906870
111SIK30.31568378
112NEK60.30454634
113PRKCQ0.30147886
114MAP3K100.29688499
115MARK20.28673440
116PRKCG0.28599209
117SYK0.27943500
118PRKG10.27428584
119MAPK40.27238913
120TNK20.26759042
121MAP3K140.26224801
122CSF1R0.26104655
123BTK0.25323657
124NTRK20.24643253
125LCK0.23691081
126ADRBK20.23055929
127DYRK30.23035126
128MAP3K70.22854314
129UHMK10.22609771
130MAPK100.22008561
131CCNB10.20975532
132MAPK130.20029982
133CDK190.19785768
134CAMK10.19514598
135PRKD20.18847840
136MAPK120.18107551
137CSK0.18052834
138KIT0.17654527
139STK110.12987463
140PLK40.12937684
141PRKAA10.12925090
142ERBB20.11918723
143CSNK1D0.11616346
144MAPK70.10936241
145CDK30.10828635
146PRKCZ0.08763406
147GRK10.08722153
148CDK40.08447704

Predicted pathways (KEGG)

RankGene SetZ-score
1Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.59135865
2Vitamin B6 metabolism_Homo sapiens_hsa007503.48271381
3Sulfur relay system_Homo sapiens_hsa041223.34151996
4Fatty acid biosynthesis_Homo sapiens_hsa000613.30811924
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.98489229
6Pyruvate metabolism_Homo sapiens_hsa006202.85823435
7Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.69221229
8RNA polymerase_Homo sapiens_hsa030202.54328917
9Primary bile acid biosynthesis_Homo sapiens_hsa001202.52846618
10Homologous recombination_Homo sapiens_hsa034402.45835971
11alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.41481545
12Base excision repair_Homo sapiens_hsa034102.36971499
13ABC transporters_Homo sapiens_hsa020102.33198894
14Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.28621512
15PPAR signaling pathway_Homo sapiens_hsa033202.22466314
16Propanoate metabolism_Homo sapiens_hsa006402.20768855
17Oxidative phosphorylation_Homo sapiens_hsa001902.18867336
18Fanconi anemia pathway_Homo sapiens_hsa034602.17503282
19Dorso-ventral axis formation_Homo sapiens_hsa043202.16793587
20Ribosome_Homo sapiens_hsa030102.10934320
21Fatty acid elongation_Homo sapiens_hsa000622.09554217
22Selenocompound metabolism_Homo sapiens_hsa004502.08039082
23Graft-versus-host disease_Homo sapiens_hsa053322.05768431
24Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.05015767
25Glycerolipid metabolism_Homo sapiens_hsa005612.03354597
26Fatty acid metabolism_Homo sapiens_hsa012122.02087500
27Fatty acid degradation_Homo sapiens_hsa000711.98608566
28Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.98603933
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.96193670
30Complement and coagulation cascades_Homo sapiens_hsa046101.90611751
31Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.87963929
32Cyanoamino acid metabolism_Homo sapiens_hsa004601.85837978
33* Glucagon signaling pathway_Homo sapiens_hsa049221.78084427
34Linoleic acid metabolism_Homo sapiens_hsa005911.77951414
35Proteasome_Homo sapiens_hsa030501.77827851
36Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.70024187
37Parkinsons disease_Homo sapiens_hsa050121.67928191
38Peroxisome_Homo sapiens_hsa041461.64291794
39Glycerophospholipid metabolism_Homo sapiens_hsa005641.63120397
40Allograft rejection_Homo sapiens_hsa053301.62017203
41Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.54593077
42RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.48902766
43Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.45479350
44Autoimmune thyroid disease_Homo sapiens_hsa053201.45199548
45Huntingtons disease_Homo sapiens_hsa050161.44402409
46Nitrogen metabolism_Homo sapiens_hsa009101.43829357
47Ether lipid metabolism_Homo sapiens_hsa005651.42266757
48Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.40612547
49DNA replication_Homo sapiens_hsa030301.40363056
50Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.39874814
51Glycosaminoglycan degradation_Homo sapiens_hsa005311.39298387
52Tryptophan metabolism_Homo sapiens_hsa003801.37373936
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.36872719
54Asthma_Homo sapiens_hsa053101.29469183
55Pentose phosphate pathway_Homo sapiens_hsa000301.28927266
56Carbohydrate digestion and absorption_Homo sapiens_hsa049731.26930408
57Cysteine and methionine metabolism_Homo sapiens_hsa002701.26269675
58Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.23444027
59Type I diabetes mellitus_Homo sapiens_hsa049401.22487979
60Maturity onset diabetes of the young_Homo sapiens_hsa049501.18146523
61Basal transcription factors_Homo sapiens_hsa030221.15537345
62Histidine metabolism_Homo sapiens_hsa003401.15194771
63Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.13820780
64Staphylococcus aureus infection_Homo sapiens_hsa051501.11422541
65Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.11173433
66Bile secretion_Homo sapiens_hsa049761.09482101
67Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07454503
68Lysosome_Homo sapiens_hsa041421.06919228
69NOD-like receptor signaling pathway_Homo sapiens_hsa046211.03765791
70Primary immunodeficiency_Homo sapiens_hsa053401.02224413
71Vitamin digestion and absorption_Homo sapiens_hsa049770.97809919
72Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.96620623
73Fat digestion and absorption_Homo sapiens_hsa049750.95266156
74Steroid hormone biosynthesis_Homo sapiens_hsa001400.92411336
75Fructose and mannose metabolism_Homo sapiens_hsa000510.90877469
76beta-Alanine metabolism_Homo sapiens_hsa004100.90506938
77Glutathione metabolism_Homo sapiens_hsa004800.90419057
78Pentose and glucuronate interconversions_Homo sapiens_hsa000400.89170674
79Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.88152836
80Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.86397706
81Taste transduction_Homo sapiens_hsa047420.86160537
82Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.84892347
83Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.84171939
84Herpes simplex infection_Homo sapiens_hsa051680.83875491
85Chemical carcinogenesis_Homo sapiens_hsa052040.82103031
86Arachidonic acid metabolism_Homo sapiens_hsa005900.81548616
87Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.81356365
88Steroid biosynthesis_Homo sapiens_hsa001000.80358714
89RNA degradation_Homo sapiens_hsa030180.77245010
90One carbon pool by folate_Homo sapiens_hsa006700.75700298
91Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.75082498
92Drug metabolism - other enzymes_Homo sapiens_hsa009830.74160866
93Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.73205787
94Alzheimers disease_Homo sapiens_hsa050100.72600694
95Nucleotide excision repair_Homo sapiens_hsa034200.72180752
96Mismatch repair_Homo sapiens_hsa034300.71816147
97Retinol metabolism_Homo sapiens_hsa008300.71732818
98Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.71687730
99Adipocytokine signaling pathway_Homo sapiens_hsa049200.71428618
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.70448620
101Carbon metabolism_Homo sapiens_hsa012000.68522415
102Caffeine metabolism_Homo sapiens_hsa002320.68135247
103Purine metabolism_Homo sapiens_hsa002300.67534366
104Antigen processing and presentation_Homo sapiens_hsa046120.66105893
105Olfactory transduction_Homo sapiens_hsa047400.65920784
106Amphetamine addiction_Homo sapiens_hsa050310.63431477
107SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58976759
108Butanoate metabolism_Homo sapiens_hsa006500.57847225
109Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.57314547
110Leishmaniasis_Homo sapiens_hsa051400.56404331
111Spliceosome_Homo sapiens_hsa030400.55699071
112Sphingolipid metabolism_Homo sapiens_hsa006000.55274088
113Arginine biosynthesis_Homo sapiens_hsa002200.53784254
114Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.52993687
115Phototransduction_Homo sapiens_hsa047440.52641653
116Long-term depression_Homo sapiens_hsa047300.52565280
117Renin secretion_Homo sapiens_hsa049240.52456926
118Epstein-Barr virus infection_Homo sapiens_hsa051690.50552508
119Rheumatoid arthritis_Homo sapiens_hsa053230.50317477
120Tuberculosis_Homo sapiens_hsa051520.50186722
121Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.49526123
122Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.49507090
123T cell receptor signaling pathway_Homo sapiens_hsa046600.49489132
124Metabolic pathways_Homo sapiens_hsa011000.48975702
125Nicotine addiction_Homo sapiens_hsa050330.47420944
126Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46806616
127Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.44315340
128* Calcium signaling pathway_Homo sapiens_hsa040200.41288741
129Other glycan degradation_Homo sapiens_hsa005110.39324481
130Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.38602639
131B cell receptor signaling pathway_Homo sapiens_hsa046620.37193610
132Systemic lupus erythematosus_Homo sapiens_hsa053220.36882406
133Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.36396184
134RNA transport_Homo sapiens_hsa030130.33931104
135Salivary secretion_Homo sapiens_hsa049700.32043527
136Oocyte meiosis_Homo sapiens_hsa041140.32034035
137Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.30687420
138Tyrosine metabolism_Homo sapiens_hsa003500.30246893
139Acute myeloid leukemia_Homo sapiens_hsa052210.28091477
140Intestinal immune network for IgA production_Homo sapiens_hsa046720.27061838
141Measles_Homo sapiens_hsa051620.26492724
142Pyrimidine metabolism_Homo sapiens_hsa002400.26447161
143Biosynthesis of amino acids_Homo sapiens_hsa012300.26332207
144Glutamatergic synapse_Homo sapiens_hsa047240.26225143
145Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.26105935
146Regulation of autophagy_Homo sapiens_hsa041400.25816417
147Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.25413719
148Morphine addiction_Homo sapiens_hsa050320.25397106
149GnRH signaling pathway_Homo sapiens_hsa049120.23854992
150Circadian rhythm_Homo sapiens_hsa047100.23250881
151NF-kappa B signaling pathway_Homo sapiens_hsa040640.22115877
152Insulin secretion_Homo sapiens_hsa049110.20421460
153Collecting duct acid secretion_Homo sapiens_hsa049660.19783381

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