PMM1

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: Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nucleoside transmembrane transport (GO:1901642)5.74884489
2establishment of protein localization to mitochondrial membrane (GO:0090151)4.79190741
3proteasome assembly (GO:0043248)4.61427329
4purine nucleobase biosynthetic process (GO:0009113)4.60203020
5ribosome assembly (GO:0042255)4.51986023
6peroxisome fission (GO:0016559)4.47468327
7* GDP-mannose metabolic process (GO:0019673)4.44379362
8nucleobase biosynthetic process (GO:0046112)4.41656811
9nucleoside transport (GO:0015858)4.13128700
10peptidyl-glutamic acid carboxylation (GO:0017187)3.95920723
11protein carboxylation (GO:0018214)3.95920723
12transcription elongation from RNA polymerase III promoter (GO:0006385)3.91921727
13termination of RNA polymerase III transcription (GO:0006386)3.91921727
14ribosome biogenesis (GO:0042254)3.89764207
15negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.81444485
16rRNA modification (GO:0000154)3.77757128
17positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.74766718
18anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.73508864
19formation of translation preinitiation complex (GO:0001731)3.72402457
20regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.64592907
217-methylguanosine mRNA capping (GO:0006370)3.60126812
22negative regulation of ligase activity (GO:0051352)3.51152532
23negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.51152532
24type B pancreatic cell proliferation (GO:0044342)3.48973255
257-methylguanosine RNA capping (GO:0009452)3.47826787
26RNA capping (GO:0036260)3.47826787
27positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.40505850
28cullin deneddylation (GO:0010388)3.40461502
29transcription elongation from RNA polymerase I promoter (GO:0006362)3.40240172
30establishment of protein localization to mitochondrion (GO:0072655)3.40070978
31mitotic metaphase plate congression (GO:0007080)3.39623100
32transcription from RNA polymerase I promoter (GO:0006360)3.38456071
33regulation of mitochondrial translation (GO:0070129)3.38198071
34sulfur amino acid catabolic process (GO:0000098)3.37825023
35regulation of synapse structural plasticity (GO:0051823)3.36667287
36regulation of cellular amino acid metabolic process (GO:0006521)3.33079830
37mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.31830643
38termination of RNA polymerase I transcription (GO:0006363)3.30086163
39ribonucleoprotein complex biogenesis (GO:0022613)3.28667418
40protein neddylation (GO:0045116)3.28105173
41DNA deamination (GO:0045006)3.27877367
42L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.27415537
43maturation of SSU-rRNA (GO:0030490)3.24151247
44protein targeting to mitochondrion (GO:0006626)3.23442677
45chaperone-mediated protein transport (GO:0072321)3.22441165
46DNA replication checkpoint (GO:0000076)3.20865481
47positive regulation of ligase activity (GO:0051351)3.20364998
48positive regulation of TOR signaling (GO:0032008)3.19190551
49protein localization to mitochondrion (GO:0070585)3.18267001
50response to gravity (GO:0009629)3.12244431
51L-methionine salvage (GO:0071267)3.11742974
52L-methionine biosynthetic process (GO:0071265)3.11742974
53amino acid salvage (GO:0043102)3.11742974
54signal transduction involved in DNA damage checkpoint (GO:0072422)3.10490247
55signal transduction involved in DNA integrity checkpoint (GO:0072401)3.10490247
56protein deneddylation (GO:0000338)3.10467203
57modified amino acid transport (GO:0072337)3.10435390
58DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.10059375
59histone arginine methylation (GO:0034969)3.09996193
60ribosomal large subunit biogenesis (GO:0042273)3.09563738
61signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.07592276
62signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.07592276
63signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.07592276
64transcription initiation from RNA polymerase I promoter (GO:0006361)3.05693228
65spliceosomal snRNP assembly (GO:0000387)3.05624249
66signal transduction involved in cell cycle checkpoint (GO:0072395)3.05139551
67intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.04127505
68signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.04127505
69regulation of ubiquitin-protein transferase activity (GO:0051438)3.03810489
70guanosine-containing compound biosynthetic process (GO:1901070)3.02439088
71rRNA processing (GO:0006364)3.01867893
72urinary tract smooth muscle contraction (GO:0014848)3.01665686
73blastocyst development (GO:0001824)3.00493612
74folic acid metabolic process (GO:0046655)2.99086284
75outer ear morphogenesis (GO:0042473)2.99064474
76L-phenylalanine catabolic process (GO:0006559)2.97145361
77erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.97145361
78energy coupled proton transport, down electrochemical gradient (GO:0015985)2.93017330
79ATP synthesis coupled proton transport (GO:0015986)2.93017330
80short-chain fatty acid metabolic process (GO:0046459)2.92924618
81lung-associated mesenchyme development (GO:0060484)2.92469309
82L-phenylalanine metabolic process (GO:0006558)2.92025590
83erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.92025590
84pseudouridine synthesis (GO:0001522)2.91363863
85rRNA metabolic process (GO:0016072)2.90017099
86response to misfolded protein (GO:0051788)2.89321955
87regulation of ligase activity (GO:0051340)2.88440679
88protein targeting to peroxisome (GO:0006625)2.86660349
89establishment of protein localization to peroxisome (GO:0072663)2.86660349
90protein localization to peroxisome (GO:0072662)2.86660349
91regulation of translational termination (GO:0006449)2.86225742
92carbohydrate derivative transport (GO:1901264)2.85236540
93cellular component biogenesis (GO:0044085)2.84018617
94DNA replication initiation (GO:0006270)2.79817891
95GMP metabolic process (GO:0046037)2.76858054
96regulation of cholesterol esterification (GO:0010872)2.74435261
97peroxisomal transport (GO:0043574)2.74251417
98G1/S transition of mitotic cell cycle (GO:0000082)2.73912387
99cell cycle G1/S phase transition (GO:0044843)2.73912387
100transcription-coupled nucleotide-excision repair (GO:0006283)2.73530085
101positive regulation of protein targeting to membrane (GO:0090314)2.73205142
102maturation of 5.8S rRNA (GO:0000460)2.72684722
103rRNA methylation (GO:0031167)2.69918217
104chaperone-mediated protein complex assembly (GO:0051131)2.67902087
105peptidyl-arginine omega-N-methylation (GO:0035247)2.66551972
106regulation of gene silencing by RNA (GO:0060966)2.66476010
107regulation of posttranscriptional gene silencing (GO:0060147)2.66476010
108regulation of gene silencing by miRNA (GO:0060964)2.66476010
109regulation of plasminogen activation (GO:0010755)2.65632333
110coenzyme A biosynthetic process (GO:0015937)2.65364492
111folic acid transport (GO:0015884)2.64916077
112purine nucleoside bisphosphate biosynthetic process (GO:0034033)2.62332353
113ribonucleoside bisphosphate biosynthetic process (GO:0034030)2.62332353
114nucleoside bisphosphate biosynthetic process (GO:0033866)2.62332353
115viral protein processing (GO:0019082)2.62074146
116transcription elongation from RNA polymerase II promoter (GO:0006368)2.60355785
117DNA-templated transcription, elongation (GO:0006354)2.59986911
118positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.59847312
119triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.59280681
120regulation of cellular amine metabolic process (GO:0033238)2.59168438
121negative regulation of cAMP-mediated signaling (GO:0043951)2.58961454
122regulation of protein targeting to membrane (GO:0090313)2.58622299
123protein complex localization (GO:0031503)2.58372472
124positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)2.58329145
125cellular ketone body metabolic process (GO:0046950)2.56269647
126UTP biosynthetic process (GO:0006228)2.54240053
127positive regulation of cell cycle arrest (GO:0071158)2.52810992
128CDP-diacylglycerol metabolic process (GO:0046341)2.52622166
129cofactor transport (GO:0051181)2.50316300
130positive regulation of viral transcription (GO:0050434)2.49850445
131regulation of translation in response to stress (GO:0043555)2.49119272
132regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.48860125
133neuromuscular process controlling posture (GO:0050884)2.48752937
134mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.48349388
135negative regulation of protein ubiquitination (GO:0031397)2.48294163
136methionine biosynthetic process (GO:0009086)2.47966580
137metaphase plate congression (GO:0051310)2.46805796
138positive regulation of synapse maturation (GO:0090129)2.46677265
139maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.46289281
140GTP biosynthetic process (GO:0006183)2.45766698
141intracellular protein transmembrane import (GO:0044743)2.45268015
142DNA strand elongation involved in DNA replication (GO:0006271)2.44236258
143positive regulation of protein kinase C signaling (GO:0090037)2.44080091
144platelet dense granule organization (GO:0060155)2.43934129
145protein retention in ER lumen (GO:0006621)2.41794750
146negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.40870793
147negative regulation of cell aging (GO:0090344)2.40053547
148peroxisome organization (GO:0007031)2.39795022
149positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.39289475
150high-density lipoprotein particle remodeling (GO:0034375)2.36925507
151sulfur compound transport (GO:0072348)2.36730637
152positive regulation of fatty acid beta-oxidation (GO:0032000)2.36117979
153ketone body metabolic process (GO:1902224)2.35643822
154synaptic vesicle docking involved in exocytosis (GO:0016081)2.34454623
155regulation of mitochondrial membrane potential (GO:0051881)2.32801546
156glutamate secretion (GO:0014047)2.29341739
157positive regulation of actin filament depolymerization (GO:0030836)2.27140182
158purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.26859753
1593-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.26859753
160melanin biosynthetic process (GO:0042438)2.25543994
161regulation of integrin-mediated signaling pathway (GO:2001044)2.25109460
162cellular response to estradiol stimulus (GO:0071392)2.25109009
163synaptic vesicle maturation (GO:0016188)2.24688190
164secondary metabolite biosynthetic process (GO:0044550)2.24648566
165synaptic vesicle exocytosis (GO:0016079)2.22714974
166nucleotide transmembrane transport (GO:1901679)2.22381478
167axonemal dynein complex assembly (GO:0070286)2.22026910
168regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.21810175
169regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.21810175
170positive regulation of gastrulation (GO:2000543)2.20868051
171glycerophospholipid catabolic process (GO:0046475)2.19941690
172peptidyl-glutamic acid modification (GO:0018200)2.18097373
173reverse cholesterol transport (GO:0043691)2.17567976
174respiratory electron transport chain (GO:0022904)2.17428085
175electron transport chain (GO:0022900)2.15699083
176aldehyde catabolic process (GO:0046185)2.14961439
177response to redox state (GO:0051775)2.13736588
178aerobic respiration (GO:0009060)2.12486091
179glutathione metabolic process (GO:0006749)2.11797578
180cilium or flagellum-dependent cell motility (GO:0001539)2.09905499
181fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.09594949
182reproduction (GO:0000003)2.09302122
183positive regulation of mitochondrial fission (GO:0090141)2.09007224
184sequestering of actin monomers (GO:0042989)2.08380892
185tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.08166465
186RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.08166465
187intestinal cholesterol absorption (GO:0030299)2.08146440
188startle response (GO:0001964)2.08044939
189protein import into peroxisome matrix (GO:0016558)2.07302341
190glutathione derivative biosynthetic process (GO:1901687)2.07097683
191glutathione derivative metabolic process (GO:1901685)2.07097683
192pyrimidine nucleobase catabolic process (GO:0006208)2.06507952
193phosphatidylglycerol biosynthetic process (GO:0006655)2.04580282
194coenzyme catabolic process (GO:0009109)2.04547958
195negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.03916402
196cofactor catabolic process (GO:0051187)2.03248697

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.45130895
2MYC_18555785_ChIP-Seq_MESCs_Mouse3.90502420
3JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.58405367
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.52530057
5ETS1_20019798_ChIP-Seq_JURKAT_Human3.52474893
6E2F7_22180533_ChIP-Seq_HELA_Human3.26387883
7MYC_19079543_ChIP-ChIP_MESCs_Mouse3.21723691
8EST1_17652178_ChIP-ChIP_JURKAT_Human3.15169202
9GABP_17652178_ChIP-ChIP_JURKAT_Human3.12462878
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.07326659
11TRIM28_21343339_ChIP-Seq_HEK293_Human3.02555935
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.97896543
13* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.87579825
14RARG_19884340_ChIP-ChIP_MEFs_Mouse2.84383642
15EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.81140385
16NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.76004607
17MYC_19030024_ChIP-ChIP_MESCs_Mouse2.74318288
18ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.62341209
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.61894615
20POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.56225194
21PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.55167872
22HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.51658547
23THAP11_20581084_ChIP-Seq_MESCs_Mouse2.46767007
24NANOG_18555785_ChIP-Seq_MESCs_Mouse2.41007426
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.36096133
26HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.35475838
27YY1_21170310_ChIP-Seq_MESCs_Mouse2.32153620
28KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.27590668
29KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.27590668
30KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.27590668
31NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.27487051
32POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.24719186
33SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.23835573
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.14021138
35NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.12566717
36PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.10515961
37CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.09552998
38* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.05348371
39CTCF_27219007_Chip-Seq_Bcells_Human2.04816215
40XRN2_22483619_ChIP-Seq_HELA_Human2.04118200
41LXR_22292898_ChIP-Seq_THP-1_Human1.99791608
42CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.98926902
43VDR_23849224_ChIP-Seq_CD4+_Human1.98697203
44NELFA_20434984_ChIP-Seq_ESCs_Mouse1.97178496
45E2F4_17652178_ChIP-ChIP_JURKAT_Human1.96688033
46POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.94902164
47SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.88197156
48ERG_21242973_ChIP-ChIP_JURKAT_Human1.86912356
49EZH2_27294783_Chip-Seq_ESCs_Mouse1.83628184
50EED_16625203_ChIP-ChIP_MESCs_Mouse1.82699889
51ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.80081633
52GABP_19822575_ChIP-Seq_HepG2_Human1.79013536
53TET1_21451524_ChIP-Seq_MESCs_Mouse1.76318014
54CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.76086865
55THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.75458324
56SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.75392762
57E2F1_20622854_ChIP-Seq_HELA_Human1.75189212
58* DCP1A_22483619_ChIP-Seq_HELA_Human1.74632218
59P68_20966046_ChIP-Seq_HELA_Human1.74255552
60MYCN_18555785_ChIP-Seq_MESCs_Mouse1.70817264
61SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.70571409
62JARID2_20075857_ChIP-Seq_MESCs_Mouse1.70079898
63MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.69069570
64SUZ12_27294783_Chip-Seq_ESCs_Mouse1.68687063
65TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.67371148
66ZNF263_19887448_ChIP-Seq_K562_Human1.63375667
67PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.61688086
68TTF2_22483619_ChIP-Seq_HELA_Human1.61678688
69SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.61022184
70ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.60988262
71SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.60560032
72EZH2_22144423_ChIP-Seq_EOC_Human1.60430798
73SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.58575836
74NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.57755872
75RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.57017154
76TCF3_18692474_ChIP-Seq_MEFs_Mouse1.54198288
77EZH2_27304074_Chip-Seq_ESCs_Mouse1.53496940
78YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.52887692
79SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.52708969
80CTCF_20526341_ChIP-Seq_ESCs_Human1.52355187
81NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.51296591
82KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.50853356
83FOXM1_23109430_ChIP-Seq_U2OS_Human1.50670411
84STAT3_1855785_ChIP-Seq_MESCs_Mouse1.49608401
85BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.49389272
86SOX2_18555785_ChIP-Seq_MESCs_Mouse1.48957074
87BCL6_27268052_Chip-Seq_Bcells_Human1.47700045
88SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.45863304
89MTF2_20144788_ChIP-Seq_MESCs_Mouse1.45071307
90DNAJC2_21179169_ChIP-ChIP_NT2_Human1.44973759
91IKZF1_21737484_ChIP-ChIP_HCT116_Human1.44743598
92FOXP3_21729870_ChIP-Seq_TREG_Human1.44323436
93SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.44189879
94EZH2_18974828_ChIP-Seq_MESCs_Mouse1.42967602
95RNF2_18974828_ChIP-Seq_MESCs_Mouse1.42967602
96FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.42066522
97KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.41892749
98* RXR_22158963_ChIP-Seq_LIVER_Mouse1.41491715
99SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.40871267
100MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.39778708
101SA1_27219007_Chip-Seq_Bcells_Human1.39620112
102SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.38693492
103ELF1_20517297_ChIP-Seq_JURKAT_Human1.38002969
104UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.37835184
105SRF_21415370_ChIP-Seq_HL-1_Mouse1.36762521
106SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.36719068
107RAD21_21589869_ChIP-Seq_MESCs_Mouse1.35571429
108* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.35117561
109EGR1_23403033_ChIP-Seq_LIVER_Mouse1.34236179
110* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.33831678
111* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.32505105
112SOX2_18692474_ChIP-Seq_MEFs_Mouse1.31735967
113SA1_27219007_Chip-Seq_ERYTHROID_Human1.31052707
114NANOG_18692474_ChIP-Seq_MEFs_Mouse1.30168415
115AR_21909140_ChIP-Seq_LNCAP_Human1.29744377
116PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.29726523
117REST_18959480_ChIP-ChIP_MESCs_Mouse1.29005715
118CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.28081515
119SALL1_21062744_ChIP-ChIP_HESCs_Human1.27988899
120OCT4_18692474_ChIP-Seq_MEFs_Mouse1.27566525
121TCF3_18692474_ChIP-Seq_MESCs_Mouse1.26976684
122RARB_24833708_ChIP-Seq_LIVER_Mouse1.26035599
123ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.25522085
124BCOR_27268052_Chip-Seq_Bcells_Human1.23833999
125* TP53_20018659_ChIP-ChIP_R1E_Mouse1.23672457
126FOXP1_21924763_ChIP-Seq_HESCs_Human1.23632060
127CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.22991015
128* SMC4_20622854_ChIP-Seq_HELA_Human1.22357994
129* PHF8_20622854_ChIP-Seq_HELA_Human1.20023993
130JARID2_20064375_ChIP-Seq_MESCs_Mouse1.19623983
131ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.18739251
132KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.18195157
133SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.18158693
134KLF4_18555785_ChIP-Seq_MESCs_Mouse1.18072569
135RACK7_27058665_Chip-Seq_MCF-7_Human1.16247812
136SOX2_21211035_ChIP-Seq_LN229_Human1.16126036
137NANOG_20526341_ChIP-Seq_ESCs_Human1.15276650
138ERA_21632823_ChIP-Seq_H3396_Human1.14750097
139EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.14516367
140MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.14282013
141NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.14227335
142ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.14164285
143ELK1_22589737_ChIP-Seq_MCF10A_Human1.14096061
144HIF1A_21447827_ChIP-Seq_MCF-7_Human1.13577569
145REST_21632747_ChIP-Seq_MESCs_Mouse1.13290175
146* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.12160417
147POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.11003402
148RARA_24833708_ChIP-Seq_LIVER_Mouse1.10315034
149TP53_22127205_ChIP-Seq_IMR90_Human1.08912592
150ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.08503272
151TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.08421655
152RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.08268742
153SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.08069949
154CBX2_27304074_Chip-Seq_ESCs_Mouse1.07787366
155NANOG_18692474_ChIP-Seq_MESCs_Mouse1.07292734
156PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.07230143
157CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.07158757
158* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.06637215
159KDM5A_27292631_Chip-Seq_BREAST_Human1.06603369
160SOX2_18692474_ChIP-Seq_MESCs_Mouse1.06255674
161PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05390685
162ZFX_18555785_ChIP-Seq_MESCs_Mouse1.04874472
163NANOG_21062744_ChIP-ChIP_HESCs_Human1.04502452
164CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.04090001
165OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.03900016
166EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.02627442
167EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.02408225
168CTCF_18555785_ChIP-Seq_MESCs_Mouse1.01907801
169SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.99864306
170CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.99714379
171CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.99077573
172YY1_22570637_ChIP-Seq_MALME-3M_Human0.96583030
173POU5F1_16153702_ChIP-ChIP_HESCs_Human0.96378598
174TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.96067167
175FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.94862261
176SRY_22984422_ChIP-ChIP_TESTIS_Rat0.94187062
177ELK1_19687146_ChIP-ChIP_HELA_Human0.93580226
178POU5F1_16518401_ChIP-PET_MESCs_Mouse0.93442564
179CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.92889362
180SOX2_16153702_ChIP-ChIP_HESCs_Human0.90369509
181KAP1_27257070_Chip-Seq_ESCs_Mouse0.88420248
182BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.87788560

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching3.47632307
2MP0004957_abnormal_blastocyst_morpholog2.88024106
3MP0003111_abnormal_nucleus_morphology2.86378734
4MP0004859_abnormal_synaptic_plasticity2.79031568
5MP0005171_absent_coat_pigmentation2.74528792
6MP0003880_abnormal_central_pattern2.72498483
7MP0004270_analgesia2.61935182
8MP0003718_maternal_effect2.56543875
9MP0008260_abnormal_autophagy2.39460790
10MP0005360_urolithiasis2.34242712
11MP0008875_abnormal_xenobiotic_pharmacok2.32349252
12MP0003136_yellow_coat_color2.25067376
13MP0009840_abnormal_foam_cell2.18487263
14MP0002653_abnormal_ependyma_morphology2.16169443
15MP0010094_abnormal_chromosome_stability2.13645362
16MP0008438_abnormal_cutaneous_collagen2.13156600
17MP0005257_abnormal_intraocular_pressure2.11048720
18MP0002734_abnormal_mechanical_nocicepti2.05623785
19MP0001529_abnormal_vocalization2.02255783
20MP0001968_abnormal_touch/_nociception1.98387719
21MP0003077_abnormal_cell_cycle1.95922200
22MP0003635_abnormal_synaptic_transmissio1.94914656
23MP0008932_abnormal_embryonic_tissue1.94218919
24MP0001440_abnormal_grooming_behavior1.90577346
25MP0009046_muscle_twitch1.88795360
26MP0002064_seizures1.86807926
27MP0005174_abnormal_tail_pigmentation1.85099798
28MP0003123_paternal_imprinting1.83922751
29MP0005503_abnormal_tendon_morphology1.79491939
30MP0008058_abnormal_DNA_repair1.79184123
31MP0003011_delayed_dark_adaptation1.75969751
32MP0008057_abnormal_DNA_replication1.75238803
33MP0002735_abnormal_chemical_nociception1.74960165
34MP0008877_abnormal_DNA_methylation1.74448924
35MP0002736_abnormal_nociception_after1.72877758
36MP0001905_abnormal_dopamine_level1.71337376
37MP0002272_abnormal_nervous_system1.69611211
38MP0009745_abnormal_behavioral_response1.67215065
39MP0003806_abnormal_nucleotide_metabolis1.66888262
40MP0005423_abnormal_somatic_nervous1.65255390
41MP0002733_abnormal_thermal_nociception1.63497777
42MP0000751_myopathy1.63252392
43MP0003329_amyloid_beta_deposits1.62850223
44MP0010386_abnormal_urinary_bladder1.62636556
45MP0009379_abnormal_foot_pigmentation1.60916515
46MP0002139_abnormal_hepatobiliary_system1.60728426
47MP0001970_abnormal_pain_threshold1.58937648
48MP0002822_catalepsy1.58722713
49MP0001958_emphysema1.57242021
50MP0002876_abnormal_thyroid_physiology1.56641027
51MP0002063_abnormal_learning/memory/cond1.50146948
52MP0003786_premature_aging1.50029191
53MP0010329_abnormal_lipoprotein_level1.49939233
54MP0004019_abnormal_vitamin_homeostasis1.49774926
55MP0006292_abnormal_olfactory_placode1.49750496
56MP0000013_abnormal_adipose_tissue1.49357651
57MP0005332_abnormal_amino_acid1.45159788
58MP0005377_hearing/vestibular/ear_phenot1.43349541
59MP0003878_abnormal_ear_physiology1.43349541
60MP0002572_abnormal_emotion/affect_behav1.43301878
61MP0001502_abnormal_circadian_rhythm1.43039137
62MP0004885_abnormal_endolymph1.43004316
63MP0001730_embryonic_growth_arrest1.41205911
64MP0004142_abnormal_muscle_tone1.39627662
65MP0001486_abnormal_startle_reflex1.38274760
66MP0005365_abnormal_bile_salt1.36358654
67MP0004043_abnormal_pH_regulation1.33890642
68MP0004858_abnormal_nervous_system1.33040490
69MP0005409_darkened_coat_color1.32247879
70MP0004133_heterotaxia1.32205161
71MP0001485_abnormal_pinna_reflex1.29435324
72MP0002295_abnormal_pulmonary_circulatio1.25908715
73MP0002067_abnormal_sensory_capabilities1.25880723
74MP0000538_abnormal_urinary_bladder1.25537287
75MP0003315_abnormal_perineum_morphology1.23920894
76MP0001986_abnormal_taste_sensitivity1.22309401
77MP0006035_abnormal_mitochondrial_morpho1.21323815
78MP0001756_abnormal_urination1.19715694
79MP0005670_abnormal_white_adipose1.18146196
80MP0006276_abnormal_autonomic_nervous1.18107196
81MP0002184_abnormal_innervation1.16582073
82MP0002254_reproductive_system_inflammat1.14659439
83MP0005085_abnormal_gallbladder_physiolo1.14220596
84MP0002909_abnormal_adrenal_gland1.11285091
85MP0002160_abnormal_reproductive_system1.10254588
86MP0010030_abnormal_orbit_morphology1.10223584
87MP0000778_abnormal_nervous_system1.08180761
88MP0008789_abnormal_olfactory_epithelium1.06879871
89MP0000350_abnormal_cell_proliferation1.06715238
90MP0006072_abnormal_retinal_apoptosis1.06656692
91MP0002557_abnormal_social/conspecific_i1.05021602
92MP0000015_abnormal_ear_pigmentation1.04032438
93MP0001984_abnormal_olfaction1.03273845
94MP0003938_abnormal_ear_development1.01805593
95MP0001188_hyperpigmentation1.01662263
96MP0000955_abnormal_spinal_cord1.00705680
97MP0003879_abnormal_hair_cell1.00516146
98MP0009780_abnormal_chondrocyte_physiolo1.00437616
99MP0001501_abnormal_sleep_pattern1.00199886
100MP0009384_cardiac_valve_regurgitation0.99516774
101MP0000639_abnormal_adrenal_gland0.99127198
102MP0002882_abnormal_neuron_morphology0.98782871
103MP0001542_abnormal_bone_strength0.98388132
104MP0003279_aneurysm0.97762579
105MP0005394_taste/olfaction_phenotype0.97000943
106MP0005499_abnormal_olfactory_system0.97000943
107MP0004924_abnormal_behavior0.96695640
108MP0005386_behavior/neurological_phenoty0.96695640
109MP0002066_abnormal_motor_capabilities/c0.96389990
110MP0002638_abnormal_pupillary_reflex0.95889893
111MP0000372_irregular_coat_pigmentation0.94033530
112MP0008007_abnormal_cellular_replicative0.94014263
113MP0002751_abnormal_autonomic_nervous0.94005719
114MP0002752_abnormal_somatic_nervous0.91939349
115MP0002837_dystrophic_cardiac_calcinosis0.91709135
116MP0000747_muscle_weakness0.91432508
117MP0001661_extended_life_span0.90976185
118MP0002971_abnormal_brown_adipose0.90791388
119MP0002210_abnormal_sex_determination0.90591296
120MP0002938_white_spotting0.90273004
121MP0002229_neurodegeneration0.90208990
122MP0003632_abnormal_nervous_system0.90113843
123MP0002234_abnormal_pharynx_morphology0.89735912
124MP0000358_abnormal_cell_content/0.89271282
125MP0003634_abnormal_glial_cell0.88814040
126MP0002085_abnormal_embryonic_tissue0.88502705
127MP0003283_abnormal_digestive_organ0.87683864
128MP0005551_abnormal_eye_electrophysiolog0.86486883
129MP0002080_prenatal_lethality0.86448009
130MP0002152_abnormal_brain_morphology0.86324086
131MP0001145_abnormal_male_reproductive0.86220963
132MP0000750_abnormal_muscle_regeneration0.85552184
133MP0003186_abnormal_redox_activity0.85404083
134MP0001672_abnormal_embryogenesis/_devel0.85275728
135MP0005380_embryogenesis_phenotype0.85275728
136MP0001697_abnormal_embryo_size0.84884963
137MP0006036_abnormal_mitochondrial_physio0.83426327
138MP0003941_abnormal_skin_development0.83290804
139MP0003698_abnormal_male_reproductive0.83113934
140MP0001963_abnormal_hearing_physiology0.81593091
141MP0003950_abnormal_plasma_membrane0.81376461
142MP0004145_abnormal_muscle_electrophysio0.80996446
143MP0004811_abnormal_neuron_physiology0.80868535
144MP0003861_abnormal_nervous_system0.80264473
145MP0001929_abnormal_gametogenesis0.79075095
146MP0005395_other_phenotype0.78210485
147MP0000026_abnormal_inner_ear0.78000333
148MP0000049_abnormal_middle_ear0.77240617
149MP0005448_abnormal_energy_balance0.76949545
150MP0002118_abnormal_lipid_homeostasis0.76655619
151MP0006082_CNS_inflammation0.75739660
152MP0001944_abnormal_pancreas_morphology0.74772186
153MP0003137_abnormal_impulse_conducting0.73616045
154MP0005083_abnormal_biliary_tract0.72978804
155MP0001666_abnormal_nutrient_absorption0.69358405
156MP0005408_hypopigmentation0.68518630
157MP0000003_abnormal_adipose_tissue0.67932153
158MP0005253_abnormal_eye_physiology0.66064887

Predicted human phenotypes

RankGene SetZ-score
1Akinesia (HP:0002304)5.12982118
2Cerebral hypomyelination (HP:0006808)5.03540180
3Hypobetalipoproteinemia (HP:0003563)4.33340937
4Breast hypoplasia (HP:0003187)4.10888644
5Global brain atrophy (HP:0002283)3.97637300
6Birth length less than 3rd percentile (HP:0003561)3.89190312
7Myokymia (HP:0002411)3.72776498
8Abnormality of the labia minora (HP:0012880)3.63800713
9Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.49101102
10Carpal bone hypoplasia (HP:0001498)3.42742967
11Diminished movement (HP:0002374)3.40936866
12Delusions (HP:0000746)3.27851337
13Focal motor seizures (HP:0011153)3.27737409
14CNS hypomyelination (HP:0003429)3.25264123
15Focal dystonia (HP:0004373)3.24873363
16Brushfield spots (HP:0001088)3.20443539
17Craniofacial dystonia (HP:0012179)3.13991335
18Amblyopia (HP:0000646)3.04787053
19Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.04713817
20Renal Fanconi syndrome (HP:0001994)3.04709636
21Coronal craniosynostosis (HP:0004440)3.00171148
22Rough bone trabeculation (HP:0100670)2.97584729
23Delayed CNS myelination (HP:0002188)2.89514203
24Hypolipoproteinemia (HP:0010981)2.88789631
25Congenital glaucoma (HP:0001087)2.87729402
26Aplasia of the musculature (HP:0100854)2.86241683
27Turricephaly (HP:0000262)2.84983888
28Epiphyseal stippling (HP:0010655)2.83423958
29Absent radius (HP:0003974)2.77655884
30Cholelithiasis (HP:0001081)2.75177302
31Aplasia involving forearm bones (HP:0009822)2.72697063
32Absent forearm bone (HP:0003953)2.72697063
33Abnormal gallbladder morphology (HP:0012437)2.71001711
34Prolonged partial thromboplastin time (HP:0003645)2.64487425
35Abnormality of fatty-acid metabolism (HP:0004359)2.59891099
36Large eyes (HP:0001090)2.58481609
37Patellar aplasia (HP:0006443)2.51380211
38Impulsivity (HP:0100710)2.50485768
39Popliteal pterygium (HP:0009756)2.48925066
40Microretrognathia (HP:0000308)2.48512006
41Aplasia/Hypoplasia of the patella (HP:0006498)2.47201593
42Poor suck (HP:0002033)2.47187598
43Dysautonomia (HP:0002459)2.42366898
44Abnormal epiphyseal ossification (HP:0010656)2.41408123
45Acute necrotizing encephalopathy (HP:0006965)2.40731284
46Lipid accumulation in hepatocytes (HP:0006561)2.39465330
47Postnatal microcephaly (HP:0005484)2.39170537
48Increased serum pyruvate (HP:0003542)2.39009575
49Abnormality of glycolysis (HP:0004366)2.39009575
50Joint hemorrhage (HP:0005261)2.38053408
51Focal seizures (HP:0007359)2.35861706
52Split foot (HP:0001839)2.34474929
53Premature ovarian failure (HP:0008209)2.33462641
54Renal tubular dysfunction (HP:0000124)2.32928914
55Xanthomatosis (HP:0000991)2.30265938
56Dyskinesia (HP:0100660)2.27168303
57Decreased muscle mass (HP:0003199)2.27069989
58Stenosis of the external auditory canal (HP:0000402)2.26981754
59Methylmalonic acidemia (HP:0002912)2.26526298
60Polyphagia (HP:0002591)2.25364480
61Torticollis (HP:0000473)2.25045921
62Emotional lability (HP:0000712)2.24629880
63Acanthocytosis (HP:0001927)2.24509247
64Abnormality of the umbilical cord (HP:0010881)2.24246998
65Unsteady gait (HP:0002317)2.23393948
66Broad distal phalanx of finger (HP:0009836)2.22428517
67Choroideremia (HP:0001139)2.19299135
68Abnormality of midbrain morphology (HP:0002418)2.18289051
69Molar tooth sign on MRI (HP:0002419)2.18289051
70Dialeptic seizures (HP:0011146)2.14954405
71Ureteral duplication (HP:0000073)2.13865714
72Glycosuria (HP:0003076)2.13658823
73Abnormality of urine glucose concentration (HP:0011016)2.13658823
74Abnormal autonomic nervous system physiology (HP:0012332)2.11362945
75Atonic seizures (HP:0010819)2.09664241
76Abnormal trabecular bone morphology (HP:0100671)2.08956910
77Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.08413083
78Neurodegeneration (HP:0002180)2.08201655
79Methylmalonic aciduria (HP:0012120)2.07715493
80Mitochondrial inheritance (HP:0001427)2.07148053
81Hand muscle atrophy (HP:0009130)2.06293760
82Supernumerary spleens (HP:0009799)2.06280856
83Secondary amenorrhea (HP:0000869)2.06011144
84Abnormal mitochondria in muscle tissue (HP:0008316)2.03888672
85Epileptic encephalopathy (HP:0200134)2.03846966
86Buphthalmos (HP:0000557)2.03628743
87Mesangial abnormality (HP:0001966)2.03424361
88Increased CSF lactate (HP:0002490)2.03236753
89Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.02876566
90Hepatic necrosis (HP:0002605)2.02393514
91Ependymoma (HP:0002888)2.02274536
92Neonatal onset (HP:0003623)2.00898890
93Abnormality of renal resorption (HP:0011038)2.00588024
94Partial duplication of the phalanx of hand (HP:0009999)2.00457813
95Rib fusion (HP:0000902)1.98892184
96Opisthotonus (HP:0002179)1.97472601
97CNS demyelination (HP:0007305)1.97106516
98Megaloblastic anemia (HP:0001889)1.96921223
99Breast aplasia (HP:0100783)1.96538005
100Visual hallucinations (HP:0002367)1.96321440
101Abnormality of aromatic amino acid family metabolism (HP:0004338)1.94669205
102Horseshoe kidney (HP:0000085)1.93812024
103External ophthalmoplegia (HP:0000544)1.92843845
104Aplasia/Hypoplasia involving the musculature (HP:0001460)1.92236626
105Abnormal eating behavior (HP:0100738)1.92212185
106Abnormality of the lower motor neuron (HP:0002366)1.91828237
107Hepatocellular necrosis (HP:0001404)1.91130695
108Progressive external ophthalmoplegia (HP:0000590)1.90711480
109Degeneration of anterior horn cells (HP:0002398)1.90015681
110Abnormality of the anterior horn cell (HP:0006802)1.90015681
111Abnormality of the gallbladder (HP:0005264)1.89547681
112Absence seizures (HP:0002121)1.89299253
113Fetal akinesia sequence (HP:0001989)1.88184195
114Progressive muscle weakness (HP:0003323)1.87798468
115Progressive macrocephaly (HP:0004481)1.85647024
1163-Methylglutaconic aciduria (HP:0003535)1.85488680
117Amyloidosis (HP:0011034)1.85279119
118Aplasia/hypoplasia of the humerus (HP:0006507)1.84911168
119Abnormality of alanine metabolism (HP:0010916)1.84653413
120Hyperalaninemia (HP:0003348)1.84653413
121Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.84653413
122Abnormal respiratory epithelium morphology (HP:0012253)1.84464709
123Abnormal respiratory motile cilium morphology (HP:0005938)1.84464709
124Aplasia/Hypoplasia of the breasts (HP:0010311)1.83934880
125Increased serum lactate (HP:0002151)1.82840003
126Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.81604445
127Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.81549533
128Hypoplastic heart (HP:0001961)1.81445916
129Patent foramen ovale (HP:0001655)1.81421842
130Annular pancreas (HP:0001734)1.81331114
131Brittle hair (HP:0002299)1.80365246
132Dicarboxylic aciduria (HP:0003215)1.80316577
133Abnormality of dicarboxylic acid metabolism (HP:0010995)1.80316577
134Protrusio acetabuli (HP:0003179)1.80244136
135Congenital sensorineural hearing impairment (HP:0008527)1.79415561
136Abnormal respiratory motile cilium physiology (HP:0012261)1.79303571
137Primary adrenal insufficiency (HP:0008207)1.78345483
138Increased muscle lipid content (HP:0009058)1.77824003
139Death in infancy (HP:0001522)1.77743872
140Hyperglycinemia (HP:0002154)1.77672401
141Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.77596310
142Spastic paraparesis (HP:0002313)1.77260350
143Ankle clonus (HP:0011448)1.74672680
144Infantile muscular hypotonia (HP:0008947)1.74025127
145Atrophy/Degeneration involving motor neurons (HP:0007373)1.73904326
146Septo-optic dysplasia (HP:0100842)1.73723042
147Distal upper limb amyotrophy (HP:0007149)1.72726319
148Upper limb amyotrophy (HP:0009129)1.72726319
149Hypoplasia of the pons (HP:0012110)1.72408375
150True hermaphroditism (HP:0010459)1.72074964
151Premature rupture of membranes (HP:0001788)1.72022230
152Hyperphosphaturia (HP:0003109)1.71977686
153Abnormal ciliary motility (HP:0012262)1.71973486
154Personality changes (HP:0000751)1.71705575
155Gait imbalance (HP:0002141)1.71505147
156Macrocytic anemia (HP:0001972)1.70817635
157Oral leukoplakia (HP:0002745)1.70156471
158Chronic hepatic failure (HP:0100626)1.69908297
159Congenital stationary night blindness (HP:0007642)1.69735769
160Acute encephalopathy (HP:0006846)1.69390072
161Abnormal urine phosphate concentration (HP:0012599)1.68558408
162Fibular aplasia (HP:0002990)1.67147887
163Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.67028384
164Occipital encephalocele (HP:0002085)1.66745432
165Aplasia/Hypoplasia of the lens (HP:0008063)1.63996836
166Trismus (HP:0000211)1.63821119
167Increased hepatocellular lipid droplets (HP:0006565)1.63372563
168Congenital ichthyosiform erythroderma (HP:0007431)1.63097458
169Spinal muscular atrophy (HP:0007269)1.62989802
170Abnormality of the phalanges of the hallux (HP:0010057)1.62909990
171Testicular atrophy (HP:0000029)1.62497606
172Hypoalphalipoproteinemia (HP:0003233)1.62309942
173Leukodystrophy (HP:0002415)1.62216724
174Abnormal gallbladder physiology (HP:0012438)1.62125216
175Cholecystitis (HP:0001082)1.62125216
176Pheochromocytoma (HP:0002666)1.59574247
177Aplasia/hypoplasia of the uterus (HP:0008684)1.58709460
178Selective tooth agenesis (HP:0001592)1.58581152
179Peripheral hypomyelination (HP:0007182)1.58539865
180Limb dystonia (HP:0002451)1.57917398
181Sparse eyelashes (HP:0000653)1.57743825
182Shoulder girdle muscle weakness (HP:0003547)1.56991555
183Transposition of the great arteries (HP:0001669)1.56309461
184Abnormal connection of the cardiac segments (HP:0011545)1.56309461
185Abnormal ventriculo-arterial connection (HP:0011563)1.56309461
186Esophageal atresia (HP:0002032)1.55501729
187Hypoplasia of the capital femoral epiphysis (HP:0003090)1.55136631
188Adrenal hypoplasia (HP:0000835)1.54488306
189Oligodactyly (hands) (HP:0001180)1.54319642

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.24163201
2MAPK153.77908953
3WEE13.58272466
4PNCK3.55980720
5TSSK63.35052992
6TESK13.15969710
7EPHA22.64628298
8ERN12.54708044
9ARAF2.48582056
10AKT32.41149805
11BCKDK2.40051529
12MAP3K92.28377428
13NEK12.20882770
14PRKD32.10824357
15STK162.03744221
16EIF2AK11.86502954
17WNK41.86084856
18TRIM281.85804889
19EPHB21.81898733
20NME11.70098531
21MAP2K61.67605619
22EPHA41.66639437
23GRK51.66238212
24PLK41.64866375
25NME21.64384187
26TTK1.63484227
27PLK31.61630884
28BRAF1.60276893
29VRK21.60194801
30TESK21.56391698
31MYLK1.51248147
32SRPK11.44494505
33LMTK21.43185135
34LATS21.41518437
35NTRK31.38605050
36PLK11.37516354
37PRKD21.35969403
38MARK11.33813971
39PDK31.28425698
40PDK41.28425698
41AURKA1.26662158
42EIF2AK31.24178716
43CASK1.23363935
44MAPK131.20373759
45CCNB11.15443860
46PAK31.13780324
47DDR21.11253464
48CDK191.09827114
49BRSK11.09765818
50MKNK21.09398444
51PINK11.08103633
52CSNK1A1L1.07059773
53ADRBK11.06294887
54NEK21.05796355
55CDC71.05234030
56NTRK11.03875315
57PDK21.03384073
58TLK11.02593760
59AKT21.01489986
60DAPK21.01468460
61PLK20.98822194
62CHEK20.98144364
63ADRBK20.97699004
64MUSK0.97212479
65PRKCI0.96187924
66GRK10.94197279
67MINK10.90720715
68BRSK20.89835300
69UHMK10.87853080
70PAK60.87569527
71KSR20.87544557
72ALK0.86623124
73PKN10.86150027
74CDK140.85515647
75LIMK10.85247667
76PIM20.84965096
77DYRK20.84584754
78SIK20.84125366
79PRKCG0.83354474
80VRK10.82964632
81ZAK0.79657864
82PDPK10.79536563
83DYRK30.79085335
84STK38L0.78111328
85CSNK1G30.76404357
86CDK150.75832481
87PAK10.75454419
88CDK180.74501980
89SIK30.74309142
90MAP3K40.73822094
91OXSR10.73658495
92DYRK1B0.73300085
93CDK11A0.72946886
94CSNK1E0.72792940
95ROCK10.72792398
96MKNK10.72261100
97MAP3K30.71964910
98CAMKK10.71419208
99DAPK10.70769189
100PRKCE0.70198187
101MAP2K40.68839419
102MAP3K120.67263496
103MAP4K20.66157686
104PTK20.65247640
105PTK2B0.65111523
106MAP3K60.63615068
107PRKD10.61256767
108LRRK20.60717294
109BCR0.60388276
110MAP2K70.58917551
111ACVR1B0.58485077
112CHEK10.58175890
113RPS6KA20.57790029
114ROCK20.57595295
115CSNK2A20.57589308
116CAMK2B0.57014264
117CSNK1G20.55968659
118NTRK20.54921052
119DAPK30.54631003
120WNK30.53947915
121CDK80.53934557
122AURKB0.53420743
123RAF10.53264424
124CAMKK20.53125813
125DYRK1A0.52674438
126MAP3K80.50455442
127CDK70.48807853
128RPS6KB20.48713223
129ILK0.48133962
130PRKACA0.48113208
131PRKCZ0.47081208
132GSK3A0.45972295
133CDK20.45788054
134MST40.45750710
135CAMK2G0.45672361
136CSNK2A10.45637536
137PDK10.45209422
138CSNK1G10.45146665
139MAPKAPK50.43357369
140PRPF4B0.42554648
141PBK0.41894621
142CDK50.41356985
143PRKCA0.41329514
144STK380.41230165
145PHKG10.40521343
146PHKG20.40521343
147MAPKAPK30.37926137
148STK390.37671054
149CDK10.36549317
150CSNK1A10.35810265
151CAMK2A0.33556156
152ABL20.33066127

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.61555325
2RNA polymerase_Homo sapiens_hsa030204.12138847
3Vitamin B6 metabolism_Homo sapiens_hsa007503.57689181
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.50993018
5Sulfur metabolism_Homo sapiens_hsa009203.16198190
6Ribosome_Homo sapiens_hsa030102.79397798
7Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.72157204
8RNA transport_Homo sapiens_hsa030132.68989857
9Oxidative phosphorylation_Homo sapiens_hsa001902.60427182
10Mismatch repair_Homo sapiens_hsa034302.43774693
11DNA replication_Homo sapiens_hsa030302.36573230
12Parkinsons disease_Homo sapiens_hsa050122.21835619
13Spliceosome_Homo sapiens_hsa030402.18645841
14Pyrimidine metabolism_Homo sapiens_hsa002402.15384072
15Synaptic vesicle cycle_Homo sapiens_hsa047212.14945572
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.06523257
17Huntingtons disease_Homo sapiens_hsa050161.95728557
18Nucleotide excision repair_Homo sapiens_hsa034201.92203802
19Regulation of autophagy_Homo sapiens_hsa041401.85356877
20Collecting duct acid secretion_Homo sapiens_hsa049661.83815938
21Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.83713595
22Primary bile acid biosynthesis_Homo sapiens_hsa001201.83111328
23Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.80579293
24Nicotine addiction_Homo sapiens_hsa050331.73749910
25Basal transcription factors_Homo sapiens_hsa030221.69870511
26Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.59328257
27Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.57656454
28Fatty acid elongation_Homo sapiens_hsa000621.55541288
29Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.54611294
30Homologous recombination_Homo sapiens_hsa034401.54323602
31Oocyte meiosis_Homo sapiens_hsa041141.53458225
32Purine metabolism_Homo sapiens_hsa002301.52972899
33Peroxisome_Homo sapiens_hsa041461.52202129
34Butanoate metabolism_Homo sapiens_hsa006501.50854465
35Chemical carcinogenesis_Homo sapiens_hsa052041.50307096
36Cell cycle_Homo sapiens_hsa041101.48647401
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.48319343
38Base excision repair_Homo sapiens_hsa034101.43505388
39Alzheimers disease_Homo sapiens_hsa050101.43195310
40Phenylalanine metabolism_Homo sapiens_hsa003601.40428727
41Arginine biosynthesis_Homo sapiens_hsa002201.32125260
42Fat digestion and absorption_Homo sapiens_hsa049751.31427186
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.30371121
44PPAR signaling pathway_Homo sapiens_hsa033201.30149613
45Tyrosine metabolism_Homo sapiens_hsa003501.29811964
46Phototransduction_Homo sapiens_hsa047441.28606215
47Fatty acid degradation_Homo sapiens_hsa000711.13806056
48Cardiac muscle contraction_Homo sapiens_hsa042601.12531948
49Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09772862
50Complement and coagulation cascades_Homo sapiens_hsa046101.09750519
51Cysteine and methionine metabolism_Homo sapiens_hsa002701.09378262
52Fanconi anemia pathway_Homo sapiens_hsa034601.07695945
53Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.07598227
54Glycerophospholipid metabolism_Homo sapiens_hsa005641.06622654
55Folate biosynthesis_Homo sapiens_hsa007901.06386284
56Maturity onset diabetes of the young_Homo sapiens_hsa049501.03160950
57Histidine metabolism_Homo sapiens_hsa003401.02741739
58Caffeine metabolism_Homo sapiens_hsa002321.01549662
59Pentose and glucuronate interconversions_Homo sapiens_hsa000400.99337249
60Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.95404411
61GABAergic synapse_Homo sapiens_hsa047270.93483432
62Vitamin digestion and absorption_Homo sapiens_hsa049770.92163632
63Retinol metabolism_Homo sapiens_hsa008300.91728950
64Linoleic acid metabolism_Homo sapiens_hsa005910.90900472
65Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.90775870
66Biosynthesis of amino acids_Homo sapiens_hsa012300.90098908
67RNA degradation_Homo sapiens_hsa030180.89329603
68mRNA surveillance pathway_Homo sapiens_hsa030150.89106426
69Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.88848180
70Pentose phosphate pathway_Homo sapiens_hsa000300.87639504
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.87273978
72Steroid hormone biosynthesis_Homo sapiens_hsa001400.87233532
73Fatty acid metabolism_Homo sapiens_hsa012120.86884590
74Epstein-Barr virus infection_Homo sapiens_hsa051690.83976094
75Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.83923775
76Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.80444600
77Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.80428064
78p53 signaling pathway_Homo sapiens_hsa041150.80187922
79Amphetamine addiction_Homo sapiens_hsa050310.79715150
80Vibrio cholerae infection_Homo sapiens_hsa051100.78488380
81Propanoate metabolism_Homo sapiens_hsa006400.76579075
82* Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.76124031
83beta-Alanine metabolism_Homo sapiens_hsa004100.74909801
84Sphingolipid metabolism_Homo sapiens_hsa006000.74393296
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73693325
86Long-term potentiation_Homo sapiens_hsa047200.73424824
87Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72707757
88Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.72626961
89Glycosaminoglycan degradation_Homo sapiens_hsa005310.72442982
90One carbon pool by folate_Homo sapiens_hsa006700.72155586
91Taste transduction_Homo sapiens_hsa047420.70874646
92Glutamatergic synapse_Homo sapiens_hsa047240.69405862
93Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.68246174
94alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.68149909
95Bile secretion_Homo sapiens_hsa049760.67229154
96Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.66502369
97Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66312093
98Prion diseases_Homo sapiens_hsa050200.63130940
99* Fructose and mannose metabolism_Homo sapiens_hsa000510.63029240
100Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.62944064
101Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.62408370
102Olfactory transduction_Homo sapiens_hsa047400.62360037
103Tryptophan metabolism_Homo sapiens_hsa003800.61828707
104Galactose metabolism_Homo sapiens_hsa000520.61281645
105Carbon metabolism_Homo sapiens_hsa012000.61232849
106Dopaminergic synapse_Homo sapiens_hsa047280.57144048
107Morphine addiction_Homo sapiens_hsa050320.55649155
108* Metabolic pathways_Homo sapiens_hsa011000.54779635
109Sulfur relay system_Homo sapiens_hsa041220.53600546
110Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.53276786
111Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53191015
112Glutathione metabolism_Homo sapiens_hsa004800.52897502
113Non-homologous end-joining_Homo sapiens_hsa034500.52865745
114Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.52165105
115Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.50897215
116Serotonergic synapse_Homo sapiens_hsa047260.50792764
117Circadian entrainment_Homo sapiens_hsa047130.50026074
118Aldosterone synthesis and secretion_Homo sapiens_hsa049250.49672718
119Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.49319766
120Protein export_Homo sapiens_hsa030600.47876300
121Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.46873933
122Axon guidance_Homo sapiens_hsa043600.46735800
123Arginine and proline metabolism_Homo sapiens_hsa003300.45580077
124Nitrogen metabolism_Homo sapiens_hsa009100.45577453
125Salivary secretion_Homo sapiens_hsa049700.45565498
126Hedgehog signaling pathway_Homo sapiens_hsa043400.45150363
127Long-term depression_Homo sapiens_hsa047300.43539511
128Cyanoamino acid metabolism_Homo sapiens_hsa004600.39797875
129Gap junction_Homo sapiens_hsa045400.39473381
130Hippo signaling pathway_Homo sapiens_hsa043900.38074101
131Ether lipid metabolism_Homo sapiens_hsa005650.36474794
132Tight junction_Homo sapiens_hsa045300.34655923
133Alcoholism_Homo sapiens_hsa050340.34408304
134Circadian rhythm_Homo sapiens_hsa047100.32709507
135Steroid biosynthesis_Homo sapiens_hsa001000.31949516
136Calcium signaling pathway_Homo sapiens_hsa040200.31551430
137Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.29332388
138Mineral absorption_Homo sapiens_hsa049780.28194338
139Cocaine addiction_Homo sapiens_hsa050300.23243895
140Insulin secretion_Homo sapiens_hsa049110.21790241
141Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.21138054
142Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.20931184
143Inositol phosphate metabolism_Homo sapiens_hsa005620.20687706
144SNARE interactions in vesicular transport_Homo sapiens_hsa041300.20108714
145Pyruvate metabolism_Homo sapiens_hsa006200.19721987
146mTOR signaling pathway_Homo sapiens_hsa041500.19571925
147Rheumatoid arthritis_Homo sapiens_hsa053230.19470133
148Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.19060319
149Arachidonic acid metabolism_Homo sapiens_hsa005900.19028981

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