LDHB

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





Description: This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of integrated proviral latency (GO:0075713)5.46174140
2tricarboxylic acid cycle (GO:0006099)4.84027170
3chromatin remodeling at centromere (GO:0031055)4.74244146
4DNA strand elongation involved in DNA replication (GO:0006271)4.72358980
5CENP-A containing nucleosome assembly (GO:0034080)4.66332958
6synaptic vesicle exocytosis (GO:0016079)4.56658046
7DNA strand elongation (GO:0022616)4.48681086
8IMP biosynthetic process (GO:0006188)4.46978557
9mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.45474910
10NADH metabolic process (GO:0006734)4.38790990
11telomere maintenance via semi-conservative replication (GO:0032201)4.36270704
12mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.29846764
13purine nucleobase biosynthetic process (GO:0009113)4.29720451
14DNA replication checkpoint (GO:0000076)4.15588273
15establishment of viral latency (GO:0019043)4.14126278
16glutamate secretion (GO:0014047)4.13657496
17membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.13504190
18ATP synthesis coupled proton transport (GO:0015986)4.09495415
19energy coupled proton transport, down electrochemical gradient (GO:0015985)4.09495415
20protein localization to kinetochore (GO:0034501)4.08564357
21ribosome assembly (GO:0042255)4.04353231
22nucleobase biosynthetic process (GO:0046112)3.99387560
23regulation of acyl-CoA biosynthetic process (GO:0050812)3.98317814
24IMP metabolic process (GO:0046040)3.97489366
25mitotic metaphase plate congression (GO:0007080)3.97014022
26regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.96820084
27DNA ligation (GO:0006266)3.95882490
28DNA unwinding involved in DNA replication (GO:0006268)3.95074378
29proteasome assembly (GO:0043248)3.93729430
30histone exchange (GO:0043486)3.91329941
31respiratory electron transport chain (GO:0022904)3.89549029
32vocalization behavior (GO:0071625)3.85481621
33regulation of short-term neuronal synaptic plasticity (GO:0048172)3.85425654
34negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.83251950
35DNA replication-independent nucleosome organization (GO:0034724)3.82931814
36DNA replication-independent nucleosome assembly (GO:0006336)3.82931814
37nuclear pore complex assembly (GO:0051292)3.82063673
38regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.81210956
39electron transport chain (GO:0022900)3.80930794
40neuron cell-cell adhesion (GO:0007158)3.80182999
41telomere maintenance via recombination (GO:0000722)3.73605416
42DNA double-strand break processing (GO:0000729)3.71897973
43regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.70986097
44regulation of cofactor metabolic process (GO:0051193)3.70814765
45regulation of coenzyme metabolic process (GO:0051196)3.70814765
46mitotic recombination (GO:0006312)3.70452181
47ATP hydrolysis coupled proton transport (GO:0015991)3.67752346
48energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.67752346
49formation of translation preinitiation complex (GO:0001731)3.64153950
50L-serine metabolic process (GO:0006563)3.63102049
51double-strand break repair via nonhomologous end joining (GO:0006303)3.62532696
52non-recombinational repair (GO:0000726)3.62532696
53synaptic vesicle docking involved in exocytosis (GO:0016081)3.60559911
54nuclear pore organization (GO:0006999)3.60052312
55anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.58366480
56cullin deneddylation (GO:0010388)3.58196070
57cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.57161932
58positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.56264788
59regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.56031389
60neuronal action potential propagation (GO:0019227)3.56002656
61mitotic sister chromatid segregation (GO:0000070)3.54858922
62regulation of membrane repolarization (GO:0060306)3.53922775
63regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.53438717
64spindle checkpoint (GO:0031577)3.53431931
65striatum development (GO:0021756)3.53427818
66DNA damage response, detection of DNA damage (GO:0042769)3.53365015
67regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.52578168
68regulation of helicase activity (GO:0051095)3.51153261
69negative regulation of synaptic transmission, GABAergic (GO:0032229)3.49860604
70negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.49501054
71negative regulation of ligase activity (GO:0051352)3.49501054
72metaphase plate congression (GO:0051310)3.48980298
73positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.48344937
74negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.48336439
75negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.48336439
76negative regulation of mitotic sister chromatid segregation (GO:0033048)3.48336439
77negative regulation of mitotic sister chromatid separation (GO:2000816)3.48336439
78negative regulation of sister chromatid segregation (GO:0033046)3.48336439
79negative regulation of chromosome segregation (GO:0051985)3.46678926
80neurotransmitter secretion (GO:0007269)3.46512142
81mitotic spindle checkpoint (GO:0071174)3.46367922
82somatic hypermutation of immunoglobulin genes (GO:0016446)3.45586245
83somatic diversification of immune receptors via somatic mutation (GO:0002566)3.45586245
84regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.44988809
85positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.42448371
86DNA replication initiation (GO:0006270)3.41285594
87protein localization to chromosome, centromeric region (GO:0071459)3.39178773
88positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.38228182
89DNA replication-dependent nucleosome organization (GO:0034723)3.37227320
90DNA replication-dependent nucleosome assembly (GO:0006335)3.37227320
91sister chromatid segregation (GO:0000819)3.36942451
92regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.36048574
93regulation of mitotic spindle checkpoint (GO:1903504)3.36048574
94regulation of synaptic vesicle exocytosis (GO:2000300)3.35512465
95succinate metabolic process (GO:0006105)3.35356175
96cell communication by electrical coupling (GO:0010644)3.33876995
97detection of calcium ion (GO:0005513)3.32435639
98negative regulation of potassium ion transmembrane transport (GO:1901380)3.32222010
99spliceosomal snRNP assembly (GO:0000387)3.32163623
100regulation of synapse structural plasticity (GO:0051823)3.28455079
101ribosomal large subunit biogenesis (GO:0042273)3.27919733
102establishment of protein localization to mitochondrial membrane (GO:0090151)3.27111621
103mitotic spindle assembly checkpoint (GO:0007094)3.26741895
104nucleotide-excision repair, DNA gap filling (GO:0006297)3.26606291
105telomere maintenance via telomere lengthening (GO:0010833)3.26389899
106behavioral response to cocaine (GO:0048148)3.25901197
107positive regulation of potassium ion transmembrane transport (GO:1901381)3.25433063
108protein deneddylation (GO:0000338)3.25040163
109spindle assembly checkpoint (GO:0071173)3.24146274
110mitotic nuclear envelope disassembly (GO:0007077)3.23932973
111ribosomal small subunit assembly (GO:0000028)3.23712639
112regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.23680388
113DNA catabolic process, exonucleolytic (GO:0000738)3.20514855
114regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.19788086
115regulation of glutamate receptor signaling pathway (GO:1900449)3.17830958
116positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.17327020
117neurotransmitter-gated ion channel clustering (GO:0072578)3.16602327
118tRNA aminoacylation for protein translation (GO:0006418)3.16491627
119neuron-neuron synaptic transmission (GO:0007270)3.16482005
120regulation of synaptic vesicle transport (GO:1902803)3.15958709
121synaptic vesicle maturation (GO:0016188)3.15579736
122negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.14381196
123regulation of mitotic metaphase/anaphase transition (GO:0030071)3.14025325
124regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.14025325
125tRNA aminoacylation (GO:0043039)3.13418075
126amino acid activation (GO:0043038)3.13418075
127membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.10788335
128positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.07646376
129regulation of chromosome segregation (GO:0051983)3.07253779
130transferrin transport (GO:0033572)3.06755773
131regulation of mitotic sister chromatid separation (GO:0010965)3.06175495
132regulation of mitotic sister chromatid segregation (GO:0033047)3.06175495
133regulation of sister chromatid segregation (GO:0033045)3.06175495
134folic acid-containing compound biosynthetic process (GO:0009396)3.06081910
135regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.04507464
136negative regulation of DNA-dependent DNA replication (GO:2000104)3.03755869
137kinetochore organization (GO:0051383)3.03441800
138gamma-aminobutyric acid transport (GO:0015812)3.02698773
139cardiac muscle contraction (GO:0060048)3.01852772
140locomotory exploration behavior (GO:0035641)3.00337047
141ATP-dependent chromatin remodeling (GO:0043044)2.99778491
142oxaloacetate metabolic process (GO:0006107)2.98419548
143cardiac myofibril assembly (GO:0055003)2.97274023
144membrane repolarization (GO:0086009)2.97199066
145regulation of centriole replication (GO:0046599)2.97021476
146nuclear envelope disassembly (GO:0051081)2.96389820
147membrane disassembly (GO:0030397)2.96389820
148signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.96070155
149signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.96070155
150signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.96070155
151neurotransmitter transport (GO:0006836)2.95147483
152negative regulation of DNA recombination (GO:0045910)2.94502512
153G1/S transition of mitotic cell cycle (GO:0000082)2.93728039
154cell cycle G1/S phase transition (GO:0044843)2.93728039
155positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.92852907
156DNA topological change (GO:0006265)2.92285625
157intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.92022926
158membrane repolarization during action potential (GO:0086011)2.88823897
159regulation of cell communication by electrical coupling (GO:0010649)2.88583218
160regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.88095959
161regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.88095959
162regulation of voltage-gated calcium channel activity (GO:1901385)2.87531039
163regulation of potassium ion transmembrane transport (GO:1901379)2.87279152
164cell communication involved in cardiac conduction (GO:0086065)2.86566359
165cellular potassium ion homeostasis (GO:0030007)2.86546841
166trivalent inorganic cation transport (GO:0072512)2.86074443
167ferric iron transport (GO:0015682)2.86074443
168gamma-aminobutyric acid signaling pathway (GO:0007214)2.85979090
169cardiac conduction (GO:0061337)2.85679071
170regulation of heart rate by cardiac conduction (GO:0086091)2.85651955
171synaptic transmission, glutamatergic (GO:0035249)2.84434401
172regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.83482958
173protein localization to synapse (GO:0035418)2.82537027
174chaperone-mediated protein transport (GO:0072321)2.82473415
175regulation of neurotransmitter levels (GO:0001505)2.82204880
176cardiac muscle cell action potential involved in contraction (GO:0086002)2.82063037
177cardiac muscle cell action potential (GO:0086001)2.81495532
178long-term synaptic potentiation (GO:0060291)2.80141546
179regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.78591518
180regulation of sulfur metabolic process (GO:0042762)2.76775718
181ionotropic glutamate receptor signaling pathway (GO:0035235)2.76186695
182dopamine transport (GO:0015872)2.76065875
183hydrogen ion transmembrane transport (GO:1902600)2.75823565
184glutamate receptor signaling pathway (GO:0007215)2.74785127
185ATP biosynthetic process (GO:0006754)2.73982567
186oxidative phosphorylation (GO:0006119)2.72403313
187regulation of actin filament-based movement (GO:1903115)2.71718564
188regulation of potassium ion transmembrane transporter activity (GO:1901016)2.69412721
189sarcomere organization (GO:0045214)2.67956133
190potassium ion export (GO:0071435)2.66051294
191neuromuscular process controlling posture (GO:0050884)2.65933579
192regulation of neurotransmitter uptake (GO:0051580)2.65475197
193synaptic transmission, dopaminergic (GO:0001963)2.65439675
194membrane depolarization during action potential (GO:0086010)2.65371494
195regulation of sodium ion transmembrane transporter activity (GO:2000649)2.65274545

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.43167260
2EZH2_22144423_ChIP-Seq_EOC_Human6.20929715
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.55688198
4MYC_18555785_ChIP-Seq_MESCs_Mouse4.31087912
5* E2F4_17652178_ChIP-ChIP_JURKAT_Human4.30194624
6GBX2_23144817_ChIP-Seq_PC3_Human3.75032498
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.56467074
8EST1_17652178_ChIP-ChIP_JURKAT_Human3.54698838
9FOXM1_23109430_ChIP-Seq_U2OS_Human3.37938396
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.14903011
11EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.09863053
12E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.02129321
13FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.00930581
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.92112154
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.85945721
16MYC_19079543_ChIP-ChIP_MESCs_Mouse2.85677565
17* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.84335796
18ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.82781988
19JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.80700542
20SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.80239169
21SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.79027822
22MYC_18358816_ChIP-ChIP_MESCs_Mouse2.69291413
23ETS1_20019798_ChIP-Seq_JURKAT_Human2.68819128
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.68692376
25JARID2_20064375_ChIP-Seq_MESCs_Mouse2.66480273
26ELK1_19687146_ChIP-ChIP_HELA_Human2.45842843
27RNF2_18974828_ChIP-Seq_MESCs_Mouse2.43536703
28EZH2_18974828_ChIP-Seq_MESCs_Mouse2.43536703
29TAF15_26573619_Chip-Seq_HEK293_Human2.43071781
30AR_21909140_ChIP-Seq_LNCAP_Human2.34937366
31KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.31155360
32NELFA_20434984_ChIP-Seq_ESCs_Mouse2.29460428
33EZH2_27304074_Chip-Seq_ESCs_Mouse2.28934405
34HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.27999866
35SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.26581983
36SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.25290996
37JARID2_20075857_ChIP-Seq_MESCs_Mouse2.20799479
38NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.20776464
39THAP11_20581084_ChIP-Seq_MESCs_Mouse2.16674660
40REST_21632747_ChIP-Seq_MESCs_Mouse2.15616054
41MTF2_20144788_ChIP-Seq_MESCs_Mouse2.15258126
42FOXP3_21729870_ChIP-Seq_TREG_Human2.13253055
43YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.10870893
44NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.10376227
45VDR_23849224_ChIP-Seq_CD4+_Human2.09022690
46* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.08658542
47SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.07363064
48SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.06346334
49PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.05896795
50TTF2_22483619_ChIP-Seq_HELA_Human2.04730381
51E2F1_21310950_ChIP-Seq_MCF-7_Human2.04684226
52XRN2_22483619_ChIP-Seq_HELA_Human2.04638782
53EED_16625203_ChIP-ChIP_MESCs_Mouse2.01334310
54SALL1_21062744_ChIP-ChIP_HESCs_Human2.00841768
55* RARB_27405468_Chip-Seq_BRAIN_Mouse1.99458191
56DCP1A_22483619_ChIP-Seq_HELA_Human1.97083735
57REST_18959480_ChIP-ChIP_MESCs_Mouse1.94654397
58* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.91058129
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.88061753
60RNF2_27304074_Chip-Seq_ESCs_Mouse1.87862086
61FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.85264411
62CTBP2_25329375_ChIP-Seq_LNCAP_Human1.84827935
63SUZ12_27294783_Chip-Seq_ESCs_Mouse1.84458528
64EZH2_27294783_Chip-Seq_ESCs_Mouse1.84069443
65MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.83712819
66GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.83006046
67MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.82117088
68DROSHA_22980978_ChIP-Seq_HELA_Human1.80990830
69POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.76674330
70ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.71497845
71PADI4_21655091_ChIP-ChIP_MCF-7_Human1.70620591
72CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68931596
73GABP_19822575_ChIP-Seq_HepG2_Human1.67135004
74ELF1_17652178_ChIP-ChIP_JURKAT_Human1.66314528
75* SMAD4_21799915_ChIP-Seq_A2780_Human1.64583540
76HOXB4_20404135_ChIP-ChIP_EML_Mouse1.58959568
77SRF_21415370_ChIP-Seq_HL-1_Mouse1.58864278
78EP300_21415370_ChIP-Seq_HL-1_Mouse1.57722773
79CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.57497398
80VDR_22108803_ChIP-Seq_LS180_Human1.57121547
81BMI1_23680149_ChIP-Seq_NPCS_Mouse1.56855820
82MYC_18940864_ChIP-ChIP_HL60_Human1.56702063
83POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.53017222
84* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.52801233
85GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.52786778
86ZFP57_27257070_Chip-Seq_ESCs_Mouse1.51163555
87* PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.46143461
88YY1_21170310_ChIP-Seq_MESCs_Mouse1.45980710
89PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.44936928
90SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.44187528
91CBX2_27304074_Chip-Seq_ESCs_Mouse1.43962943
92P300_19829295_ChIP-Seq_ESCs_Human1.41657231
93IKZF1_21737484_ChIP-ChIP_HCT116_Human1.40362979
94RBPJ_22232070_ChIP-Seq_NCS_Mouse1.39863934
95SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38548136
96TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38339972
97AR_21572438_ChIP-Seq_LNCaP_Human1.38133245
98NANOG_18555785_ChIP-Seq_MESCs_Mouse1.34532923
99POU5F1_16153702_ChIP-ChIP_HESCs_Human1.34425640
100PIAS1_25552417_ChIP-Seq_VCAP_Human1.33173780
101NANOG_16153702_ChIP-ChIP_HESCs_Human1.32906059
102SOX2_21211035_ChIP-Seq_LN229_Gbm1.32609969
103HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.32041737
104POU3F2_20337985_ChIP-ChIP_501MEL_Human1.30877458
105SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30051026
106EWS_26573619_Chip-Seq_HEK293_Human1.29481270
107PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.29357283
108NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28732458
109PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28655206
110SMAD3_21741376_ChIP-Seq_EPCs_Human1.27643109
111MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.25930771
112SOX2_16153702_ChIP-ChIP_HESCs_Human1.25244259
113* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.22999516
114FUS_26573619_Chip-Seq_HEK293_Human1.22073583
115* SOX2_18555785_ChIP-Seq_MESCs_Mouse1.21979820
116CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21453732
117RNF2_27304074_Chip-Seq_NSC_Mouse1.20908189
118IGF1R_20145208_ChIP-Seq_DFB_Human1.20313871
119UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.20065671
120ERG_21242973_ChIP-ChIP_JURKAT_Human1.19598134
121CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.19443346
122* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.18787494
123TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17844673
124AR_25329375_ChIP-Seq_VCAP_Human1.17514546
125MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.17100543
126POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.16789972
127CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.16586011
128ZNF274_21170338_ChIP-Seq_K562_Hela1.15188349
129OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13641260
130STAT3_23295773_ChIP-Seq_U87_Human1.12120871
131RING1B_27294783_Chip-Seq_ESCs_Mouse1.09118445
132NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.07288438
133PRDM14_20953172_ChIP-Seq_ESCs_Human1.06269934
134SMAD_19615063_ChIP-ChIP_OVARY_Human1.05167255
135RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04876108
136RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.04598690
137KDM5A_27292631_Chip-Seq_BREAST_Human1.04456954
138CDX2_19796622_ChIP-Seq_MESCs_Mouse1.03644984
139* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.03374670
140CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.03348996
141TCF4_23295773_ChIP-Seq_U87_Human1.01897231
142ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.00889409
143ARNT_22903824_ChIP-Seq_MCF-7_Human0.99055387
144AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.98991396
145* AR_19668381_ChIP-Seq_PC3_Human0.98360336
146SOX17_20123909_ChIP-Seq_XEN_Mouse0.97796633
147SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.97496433
148AHR_22903824_ChIP-Seq_MCF-7_Human0.96702932
149PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.95498049
150ER_23166858_ChIP-Seq_MCF-7_Human0.95325552
151SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.94877969
152DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.94326975
153TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.94166170
154* KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.93713756
155NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92913415
156RUNX2_22187159_ChIP-Seq_PCA_Human0.92711934
157ERG_20887958_ChIP-Seq_HPC-7_Mouse0.91791930
158* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.90405876
159TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90033027
160SMAD4_21741376_ChIP-Seq_EPCs_Human0.89883597
161CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89436029
162SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.88936215
163CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.88379707
164* BCAT_22108803_ChIP-Seq_LS180_Human0.88065772
165MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.87023705
166JUN_21703547_ChIP-Seq_K562_Human0.86089986
167YAP1_20516196_ChIP-Seq_MESCs_Mouse0.85741987
168TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85598358
169POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.85598358
170SOX9_26525672_Chip-Seq_HEART_Mouse0.85308997
171TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.84438574
172CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.84264684
173P53_22127205_ChIP-Seq_FIBROBLAST_Human0.84043893
174CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.83990958
175SMAD4_21741376_ChIP-Seq_HESCs_Human0.83657711
176DNAJC2_21179169_ChIP-ChIP_NT2_Human0.83593392
177KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.83437310
178KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.83437310
179KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.83437310
180EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.82455893
181LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82454023
182MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.81787358
183* TCF3_18692474_ChIP-Seq_MEFs_Mouse0.80788980
184CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.80249449
185BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.80241931
186* NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.78698789
187NANOG_21062744_ChIP-ChIP_HESCs_Human0.78228391
188FLI1_27457419_Chip-Seq_LIVER_Mouse0.77834167
189ELK1_22589737_ChIP-Seq_MCF10A_Human0.77462367
190* NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.75563650
191TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.75494719
192KLF4_18555785_ChIP-Seq_MESCs_Mouse0.72906977
193IRF1_19129219_ChIP-ChIP_H3396_Human0.71723380
194TP63_19390658_ChIP-ChIP_HaCaT_Human0.71524450
195NOTCH1_21737748_ChIP-Seq_TLL_Human0.68460787

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability5.05036639
2MP0008058_abnormal_DNA_repair4.37738456
3MP0003693_abnormal_embryo_hatching4.35439730
4MP0003880_abnormal_central_pattern4.23841676
5MP0004957_abnormal_blastocyst_morpholog4.10360100
6MP0003111_abnormal_nucleus_morphology3.97881363
7MP0004859_abnormal_synaptic_plasticity3.92667287
8MP0003646_muscle_fatigue3.68326164
9MP0002837_dystrophic_cardiac_calcinosis3.64162754
10MP0003077_abnormal_cell_cycle3.40745968
11MP0008057_abnormal_DNA_replication3.32917500
12MP0008932_abnormal_embryonic_tissue3.13112396
13MP0000751_myopathy3.02724975
14MP0003635_abnormal_synaptic_transmissio2.94190368
15MP0009046_muscle_twitch2.83852128
16MP0004215_abnormal_myocardial_fiber2.66863787
17MP0008007_abnormal_cellular_replicative2.65804523
18MP0009745_abnormal_behavioral_response2.57308651
19MP0002064_seizures2.50264124
20MP0004084_abnormal_cardiac_muscle2.35136515
21MP0002063_abnormal_learning/memory/cond2.33321346
22MP0003941_abnormal_skin_development2.30844569
23MP0004270_analgesia2.28155480
24MP0006292_abnormal_olfactory_placode2.26392371
25MP0002272_abnormal_nervous_system2.21678145
26MP0001529_abnormal_vocalization2.17475546
27MP0004036_abnormal_muscle_relaxation2.15465205
28MP0001293_anophthalmia2.13336401
29MP0002572_abnormal_emotion/affect_behav2.13197208
30MP0001486_abnormal_startle_reflex2.09588958
31MP0001968_abnormal_touch/_nociception2.09517362
32MP0002736_abnormal_nociception_after2.06995858
33MP0002822_catalepsy2.06865824
34MP0009697_abnormal_copulation2.05502389
35MP0003718_maternal_effect2.02253799
36MP0001905_abnormal_dopamine_level1.96519488
37MP0005646_abnormal_pituitary_gland1.95539575
38MP0001984_abnormal_olfaction1.92797409
39MP0003567_abnormal_fetal_cardiomyocyte1.91938346
40MP0003786_premature_aging1.84353820
41MP0002734_abnormal_mechanical_nocicepti1.83945245
42MP0001730_embryonic_growth_arrest1.82382394
43MP0006276_abnormal_autonomic_nervous1.78608353
44MP0002067_abnormal_sensory_capabilities1.75641594
45MP0001440_abnormal_grooming_behavior1.74953545
46MP0000350_abnormal_cell_proliferation1.73853626
47MP0002102_abnormal_ear_morphology1.71166577
48MP0003137_abnormal_impulse_conducting1.69644970
49MP0004484_altered_response_of1.69206945
50MP0010030_abnormal_orbit_morphology1.69027202
51MP0004043_abnormal_pH_regulation1.67397657
52MP0005386_behavior/neurological_phenoty1.66846064
53MP0004924_abnormal_behavior1.66846064
54MP0002938_white_spotting1.66447243
55MP0003136_yellow_coat_color1.65851276
56MP0003890_abnormal_embryonic-extraembry1.63453227
57MP0009672_abnormal_birth_weight1.59330344
58MP0003787_abnormal_imprinting1.58594360
59MP0001501_abnormal_sleep_pattern1.57844487
60MP0006072_abnormal_retinal_apoptosis1.56456126
61MP0002972_abnormal_cardiac_muscle1.52638834
62MP0003937_abnormal_limbs/digits/tail_de1.52453649
63MP0001697_abnormal_embryo_size1.48097196
64MP0005380_embryogenesis_phenotype1.47684994
65MP0001672_abnormal_embryogenesis/_devel1.47684994
66MP0005423_abnormal_somatic_nervous1.46937003
67MP0004085_abnormal_heartbeat1.45884137
68MP0000749_muscle_degeneration1.45461261
69MP0002557_abnormal_social/conspecific_i1.44190712
70MP0004145_abnormal_muscle_electrophysio1.43778589
71MP0002084_abnormal_developmental_patter1.41843291
72MP0002085_abnormal_embryonic_tissue1.41256074
73MP0001970_abnormal_pain_threshold1.37972265
74MP0008569_lethality_at_weaning1.37679217
75MP0005620_abnormal_muscle_contractility1.36872793
76MP0003329_amyloid_beta_deposits1.35643274
77MP0002735_abnormal_chemical_nociception1.35365651
78MP0001485_abnormal_pinna_reflex1.34157712
79MP0005330_cardiomyopathy1.33930412
80MP0003186_abnormal_redox_activity1.33899582
81MP0002080_prenatal_lethality1.32882682
82MP0000372_irregular_coat_pigmentation1.32571768
83MP0002184_abnormal_innervation1.30435045
84MP0002733_abnormal_thermal_nociception1.30188953
85MP0004142_abnormal_muscle_tone1.29652003
86MP0000778_abnormal_nervous_system1.28556871
87MP0004858_abnormal_nervous_system1.27520562
88MP0003879_abnormal_hair_cell1.27000471
89MP0003122_maternal_imprinting1.24890596
90MP0006036_abnormal_mitochondrial_physio1.24712146
91MP0002697_abnormal_eye_size1.24013069
92MP0003984_embryonic_growth_retardation1.23364626
93MP0003806_abnormal_nucleotide_metabolis1.22236335
94MP0001286_abnormal_eye_development1.21806080
95MP0003119_abnormal_digestive_system1.21800303
96MP0000313_abnormal_cell_death1.21159706
97MP0005394_taste/olfaction_phenotype1.19918172
98MP0005499_abnormal_olfactory_system1.19918172
99MP0002088_abnormal_embryonic_growth/wei1.19365641
100MP0004885_abnormal_endolymph1.17053238
101MP0006138_congestive_heart_failure1.16600990
102MP0002909_abnormal_adrenal_gland1.16187910
103MP0003121_genomic_imprinting1.15688280
104MP0002066_abnormal_motor_capabilities/c1.14894299
105MP0004233_abnormal_muscle_weight1.13565948
106MP0008877_abnormal_DNA_methylation1.12332226
107MP0002653_abnormal_ependyma_morphology1.11601656
108MP0002233_abnormal_nose_morphology1.10333187
109MP0008775_abnormal_heart_ventricle1.10242045
110MP0006035_abnormal_mitochondrial_morpho1.09942148
111MP0000537_abnormal_urethra_morphology1.08935344
112MP0002882_abnormal_neuron_morphology1.08496106
113MP0005645_abnormal_hypothalamus_physiol1.08356631
114MP0002332_abnormal_exercise_endurance1.07315188
115MP0002751_abnormal_autonomic_nervous1.07213853
116MP0000358_abnormal_cell_content/1.05789003
117MP0009780_abnormal_chondrocyte_physiolo1.04368338
118MP0004197_abnormal_fetal_growth/weight/1.04335156
119MP0010307_abnormal_tumor_latency1.04133192
120MP0002106_abnormal_muscle_physiology1.04001233
121MP0001346_abnormal_lacrimal_gland1.02895443
122MP0000049_abnormal_middle_ear1.02157528
123MP0004087_abnormal_muscle_fiber1.01946531
124MP0001188_hyperpigmentation0.99846705
125MP0005377_hearing/vestibular/ear_phenot0.99479294
126MP0003878_abnormal_ear_physiology0.99479294
127MP0000579_abnormal_nail_morphology0.99186530
128MP0004811_abnormal_neuron_physiology0.98614720
129MP0002210_abnormal_sex_determination0.98041093
130MP0003315_abnormal_perineum_morphology0.97833871
131MP0001177_atelectasis0.97698782
132MP0009703_decreased_birth_body0.97196783
133MP0004147_increased_porphyrin_level0.96658144
134MP0002111_abnormal_tail_morphology0.95969914
135MP0000955_abnormal_spinal_cord0.94166562
136MP0001544_abnormal_cardiovascular_syste0.93854502
137MP0005385_cardiovascular_system_phenoty0.93854502
138MP0001963_abnormal_hearing_physiology0.92797526
139MP0001502_abnormal_circadian_rhythm0.91910356
140MP0002396_abnormal_hematopoietic_system0.91550890
141MP0002234_abnormal_pharynx_morphology0.91022814
142MP0000747_muscle_weakness0.90496615
143MP0001929_abnormal_gametogenesis0.89784307
144MP0008872_abnormal_physiological_respon0.89578236
145MP0005369_muscle_phenotype0.88738622
146MP0004130_abnormal_muscle_cell0.88700369
147MP0008789_abnormal_olfactory_epithelium0.88280471
148MP0005171_absent_coat_pigmentation0.87797541
149MP0010352_gastrointestinal_tract_polyps0.86454211
150MP0002152_abnormal_brain_morphology0.86020506
151MP0001145_abnormal_male_reproductive0.85784284
152MP0008995_early_reproductive_senescence0.85169175
153MP0005253_abnormal_eye_physiology0.84665319
154MP0003861_abnormal_nervous_system0.84549844
155MP0003631_nervous_system_phenotype0.83242429
156MP0002229_neurodegeneration0.82806049
157MP0000013_abnormal_adipose_tissue0.81881835
158MP0002269_muscular_atrophy0.81295991
159MP0003633_abnormal_nervous_system0.80369970
160MP0005535_abnormal_body_temperature0.80094813
161MP0002127_abnormal_cardiovascular_syste0.80051489
162MP0005391_vision/eye_phenotype0.80029374
163MP0000653_abnormal_sex_gland0.79387631
164MP0004133_heterotaxia0.78940788
165MP0002086_abnormal_extraembryonic_tissu0.76500588
166MP0002752_abnormal_somatic_nervous0.74485338
167MP0002019_abnormal_tumor_incidence0.73157760
168MP0003221_abnormal_cardiomyocyte_apopto0.72997819
169MP0004742_abnormal_vestibular_system0.72316211
170MP0000631_abnormal_neuroendocrine_gland0.71835143
171MP0001765_abnormal_ion_homeostasis0.71167487
172MP0005623_abnormal_meninges_morphology0.71060887
173MP0003755_abnormal_palate_morphology0.70173574
174MP0005551_abnormal_eye_electrophysiolog0.69709250
175MP0002092_abnormal_eye_morphology0.68847816
176MP0002090_abnormal_vision0.68534695
177MP0005075_abnormal_melanosome_morpholog0.67473056
178MP0001119_abnormal_female_reproductive0.66511448
179MP0001299_abnormal_eye_distance/0.66306381
180MP0000647_abnormal_sebaceous_gland0.64479723
181MP0003123_paternal_imprinting0.62034931
182MP0003385_abnormal_body_wall0.61256194
183MP0000490_abnormal_crypts_of0.58589560
184MP0000428_abnormal_craniofacial_morphol0.58488202
185MP0003698_abnormal_male_reproductive0.57530622

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.59240889
2Acute necrotizing encephalopathy (HP:0006965)4.69456296
3Abnormal mitochondria in muscle tissue (HP:0008316)4.58617847
4Myokymia (HP:0002411)4.14059774
5Pheochromocytoma (HP:0002666)4.11572492
6Progressive macrocephaly (HP:0004481)4.05879493
7Acute encephalopathy (HP:0006846)3.97768936
8Chromosomal breakage induced by crosslinking agents (HP:0003221)3.97673046
9Atonic seizures (HP:0010819)3.97092074
10Colon cancer (HP:0003003)3.93569621
11Sudden death (HP:0001699)3.86802047
12Chromsome breakage (HP:0040012)3.76094789
13Neuroendocrine neoplasm (HP:0100634)3.72861633
14Mitochondrial inheritance (HP:0001427)3.66893717
15Focal seizures (HP:0007359)3.56400603
16Febrile seizures (HP:0002373)3.51712888
17Hepatocellular necrosis (HP:0001404)3.41664446
18Increased CSF lactate (HP:0002490)3.33554621
19Birth length less than 3rd percentile (HP:0003561)3.32490644
20Epileptic encephalopathy (HP:0200134)3.32158856
21Meckel diverticulum (HP:0002245)3.30968262
22Increased serum pyruvate (HP:0003542)3.19963256
23Abnormality of glycolysis (HP:0004366)3.19963256
24Limb dystonia (HP:0002451)3.16853925
25Abnormality of chromosome stability (HP:0003220)3.15454537
26Reticulocytopenia (HP:0001896)3.14926770
27Abnormality of the ileum (HP:0001549)3.14213493
28Abnormal lung lobation (HP:0002101)3.13284952
29Exercise-induced myalgia (HP:0003738)3.05903977
30Aplasia/Hypoplasia of the uvula (HP:0010293)3.02711196
31Calf muscle hypertrophy (HP:0008981)3.01424657
32Atrial fibrillation (HP:0005110)2.99863843
33Visual hallucinations (HP:0002367)2.94131573
34Abnormality of the preputium (HP:0100587)2.90990047
35Hepatic necrosis (HP:0002605)2.89532497
36Muscle hypertrophy of the lower extremities (HP:0008968)2.88254927
37Primary atrial arrhythmia (HP:0001692)2.87006438
38Hyperventilation (HP:0002883)2.86929685
39Absence seizures (HP:0002121)2.83870945
40Syncope (HP:0001279)2.82555687
41Microvesicular hepatic steatosis (HP:0001414)2.81941964
42Multiple enchondromatosis (HP:0005701)2.81718693
43Generalized tonic-clonic seizures (HP:0002069)2.80452279
44Supraventricular tachycardia (HP:0004755)2.74089387
45Ependymoma (HP:0002888)2.72762263
46Increased hepatocellular lipid droplets (HP:0006565)2.71929944
47Abnormality of the calf musculature (HP:0001430)2.70167909
48Small intestinal stenosis (HP:0012848)2.67633744
49Duodenal stenosis (HP:0100867)2.67633744
50Supraventricular arrhythmia (HP:0005115)2.65245002
51Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.62744082
52Abnormality of alanine metabolism (HP:0010916)2.62744082
53Hyperalaninemia (HP:0003348)2.62744082
54Cerebral edema (HP:0002181)2.60661636
55Dialeptic seizures (HP:0011146)2.53151175
56Lactic acidosis (HP:0003128)2.52521906
57Progressive cerebellar ataxia (HP:0002073)2.52389855
58Left ventricular hypertrophy (HP:0001712)2.51885056
59Ventricular fibrillation (HP:0001663)2.51130248
60Prolonged QT interval (HP:0001657)2.49101745
61Palpitations (HP:0001962)2.48792686
62Exercise-induced muscle cramps (HP:0003710)2.47592361
63Respiratory failure (HP:0002878)2.47482435
64Medulloblastoma (HP:0002885)2.46494996
65Triphalangeal thumb (HP:0001199)2.44290262
66Nephroblastoma (Wilms tumor) (HP:0002667)2.41608137
67Cortical dysplasia (HP:0002539)2.40924628
68Lipid accumulation in hepatocytes (HP:0006561)2.38891896
69Abnormality of the duodenum (HP:0002246)2.38657279
70Abnormal eating behavior (HP:0100738)2.36620765
71Leukodystrophy (HP:0002415)2.35623639
72Rhabdomyosarcoma (HP:0002859)2.33197917
73Exercise intolerance (HP:0003546)2.33183808
74Abnormality of serum amino acid levels (HP:0003112)2.33081732
75Abnormality of methionine metabolism (HP:0010901)2.33018739
76Optic disc pallor (HP:0000543)2.32129726
77Bundle branch block (HP:0011710)2.31771384
78Embryonal renal neoplasm (HP:0011794)2.29214038
79Volvulus (HP:0002580)2.25095266
80Gait imbalance (HP:0002141)2.24791645
81Abnormality of the anterior horn cell (HP:0006802)2.24459798
82Degeneration of anterior horn cells (HP:0002398)2.24459798
83Neoplasm of the peripheral nervous system (HP:0100007)2.21319960
84Increased nuchal translucency (HP:0010880)2.21238433
85Anxiety (HP:0000739)2.20229253
86Nephrogenic diabetes insipidus (HP:0009806)2.19577434
87Hyperglycinemia (HP:0002154)2.18953239
88Myelodysplasia (HP:0002863)2.18280386
89Broad-based gait (HP:0002136)2.18112153
90Increased circulating renin level (HP:0000848)2.15927691
91Myotonia (HP:0002486)2.15299653
92Muscle fiber splitting (HP:0003555)2.14704931
93Spastic diplegia (HP:0001264)2.14241151
94Glioma (HP:0009733)2.13586004
95Neoplasm of the colon (HP:0100273)2.11834673
96Congenital primary aphakia (HP:0007707)2.11559427
97Sloping forehead (HP:0000340)2.10971280
98Ventricular tachycardia (HP:0004756)2.09966469
99Macrocytic anemia (HP:0001972)2.09469414
100Cerebral hypomyelination (HP:0006808)2.08627271
101Horseshoe kidney (HP:0000085)2.07971134
102Stenosis of the external auditory canal (HP:0000402)2.07376350
103Dysdiadochokinesis (HP:0002075)2.06098355
104Metabolic alkalosis (HP:0200114)2.05901918
105Progressive inability to walk (HP:0002505)2.05212757
106Failure to thrive in infancy (HP:0001531)2.02748201
107Medial flaring of the eyebrow (HP:0010747)2.02566087
108Absent radius (HP:0003974)2.02270169
109Abnormal EKG (HP:0003115)2.02265964
110Neoplasm of the adrenal gland (HP:0100631)2.01751514
111Septo-optic dysplasia (HP:0100842)2.01715410
112Polyphagia (HP:0002591)2.01710201
113Ectopic kidney (HP:0000086)2.01330638
114Abnormality of aspartate family amino acid metabolism (HP:0010899)1.99852224
115Increased intramyocellular lipid droplets (HP:0012240)1.99811953
116Abnormality of the carotid arteries (HP:0005344)1.97301482
117Abnormality of the vocal cords (HP:0008777)1.96768252
118Myoglobinuria (HP:0002913)1.95543906
119Postnatal microcephaly (HP:0005484)1.93426107
120Gaze-evoked nystagmus (HP:0000640)1.92159423
121Aplasia involving forearm bones (HP:0009822)1.91724333
122Absent forearm bone (HP:0003953)1.91724333
123Dysmetric saccades (HP:0000641)1.91714632
124Genital tract atresia (HP:0001827)1.91625201
125Ventricular arrhythmia (HP:0004308)1.90140822
126Vaginal atresia (HP:0000148)1.89811937
127Impaired vibration sensation in the lower limbs (HP:0002166)1.89375038
128Abnormality of glycine metabolism (HP:0010895)1.89163473
129Abnormality of serine family amino acid metabolism (HP:0010894)1.89163473
130Hypokalemic alkalosis (HP:0001949)1.89142752
131Type I transferrin isoform profile (HP:0003642)1.88801574
132Bifid tongue (HP:0010297)1.88680956
133Abnormality of cells of the erythroid lineage (HP:0012130)1.87525386
134Astrocytoma (HP:0009592)1.87365042
135Abnormality of the astrocytes (HP:0100707)1.87365042
136Gout (HP:0001997)1.87245333
137Hyperglycinuria (HP:0003108)1.85429702
138Fetal akinesia sequence (HP:0001989)1.85206486
139X-linked dominant inheritance (HP:0001423)1.84915381
140Polyuria (HP:0000103)1.84446627
141Agnosia (HP:0010524)1.83019653
142Emotional lability (HP:0000712)1.82750994
143Abnormal number of erythroid precursors (HP:0012131)1.82696952
144Ketoacidosis (HP:0001993)1.82619374
145Aplastic anemia (HP:0001915)1.80801253
146Increased muscle lipid content (HP:0009058)1.80469186
147Hypoplastic left heart (HP:0004383)1.79560654
148Facial cleft (HP:0002006)1.79396035
149Pancytopenia (HP:0001876)1.78470008
150Heart block (HP:0012722)1.78309248
151Conjunctival hamartoma (HP:0100780)1.77616272
152Athetosis (HP:0002305)1.77405266
153Absent septum pellucidum (HP:0001331)1.77167292
154Depression (HP:0000716)1.75649004
155Truncal ataxia (HP:0002078)1.75514720
156Abnormality of the septum pellucidum (HP:0007375)1.75505682
157Polydipsia (HP:0001959)1.75036677
158Abnormal drinking behavior (HP:0030082)1.75036677
159Insidious onset (HP:0003587)1.74732020
160Termporal pattern (HP:0011008)1.74732020
161Abnormality of cochlea (HP:0000375)1.74647872
162Pancreatic islet-cell hyperplasia (HP:0004510)1.73346281
163Ragged-red muscle fibers (HP:0003200)1.73258344
164Lipoatrophy (HP:0100578)1.73117577
165Selective tooth agenesis (HP:0001592)1.72356925
166Increased serum lactate (HP:0002151)1.72276309
167Action tremor (HP:0002345)1.72079457
168Absent thumb (HP:0009777)1.71918662
169Methylmalonic acidemia (HP:0002912)1.71592153
170Abnormality of the labia minora (HP:0012880)1.71486686
171Abnormal number of incisors (HP:0011064)1.71113495
172Megaloblastic anemia (HP:0001889)1.71015550
173Aplasia/Hypoplasia of the sternum (HP:0006714)1.70569863
174Decreased activity of mitochondrial respiratory chain (HP:0008972)1.67815434
175Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.67815434
176Supernumerary spleens (HP:0009799)1.66776947
177Esophageal atresia (HP:0002032)1.66070629
178Aplasia/Hypoplasia of the sacrum (HP:0008517)1.65101039
179Reduced antithrombin III activity (HP:0001976)1.64960123
180Clubbing of toes (HP:0100760)1.63762292
181Bilateral microphthalmos (HP:0007633)1.63709100

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.43894790
2CDC73.69756992
3SRPK13.48185104
4MAP3K43.34103978
5PBK3.23640688
6VRK23.14636937
7TTK3.13216430
8MAP2K72.95925122
9EPHA42.92420866
10CASK2.88561127
11MKNK12.83293478
12LMTK22.65439305
13PDK32.64390070
14PDK42.64390070
15PLK32.60786130
16MAP3K122.57766867
17NTRK32.47456559
18PLK42.41535739
19MAP3K92.36143333
20PHKG12.35581504
21PHKG22.35581504
22WEE12.29298990
23MKNK22.28586310
24TRIM282.27780792
25ZAK2.26089741
26EIF2AK32.25566808
27WNK42.24125785
28EIF2AK12.22452604
29OXSR12.21091435
30PLK21.92104564
31MAP2K41.85888294
32STK161.84789269
33MST41.83719641
34ARAF1.83398771
35MYLK1.82957224
36VRK11.77770137
37MUSK1.77547132
38MINK11.76788414
39BMPR21.73300375
40TAF11.68377669
41PLK11.67820380
42NEK11.66532701
43NUAK11.61657042
44PDK21.61378454
45WNK31.59682341
46STK391.55107656
47NTRK21.54846580
48SGK2231.49953047
49SGK4941.49953047
50BRSK21.46498002
51PASK1.42840195
52ATR1.39756071
53KSR21.36312321
54PINK11.36161113
55CDK191.34256955
56MAPK131.30672250
57DAPK21.29080503
58PRKD31.25177620
59CHEK21.23490834
60SGK21.22506760
61BCR1.21262188
62MARK11.18958154
63GRK51.17491429
64OBSCN1.17248268
65BRSK11.16993491
66STK38L1.16936866
67CAMK2A1.15496546
68AURKB1.13923238
69PNCK1.13848559
70NME21.13467205
71STK381.11900138
72PAK61.09498504
73ALK1.08038449
74KSR11.08027019
75EIF2AK21.05820006
76DAPK11.04781127
77MAPKAPK51.01538697
78LATS20.99110421
79BRAF0.99001457
80MAP3K60.96980491
81CDK50.94335777
82WNK10.93735986
83CSNK1G10.92969565
84BMPR1B0.90064785
85CAMK2D0.87219587
86CHEK10.86684144
87ATM0.84814122
88GRK70.84518370
89NME10.84387289
90PRPF4B0.83918962
91DYRK20.83864551
92PRKCG0.83545416
93PAK30.83347435
94NEK20.83244980
95CAMK2B0.80219515
96SGK30.78477284
97MAP4K20.74408911
98STK240.74008283
99TSSK60.73976173
100PTK2B0.73963311
101CCNB10.73804205
102SCYL20.73350800
103TTN0.72771965
104MOS0.72569051
105AKT30.72511116
106CDK70.70646311
107ERBB30.69955308
108ROCK20.68591354
109CSNK1A1L0.68159797
110RPS6KA40.68025531
111ERBB40.67750098
112PAK40.66989210
113STK40.66757772
114CSNK1G20.66433428
115PRKCE0.65826032
116TGFBR10.64733336
117CAMK2G0.63963977
118CDK180.63547693
119SIK30.59138861
120CDK150.57960974
121RET0.57576456
122TYRO30.56981005
123MAP3K130.56589467
124CSNK2A20.56206543
125DYRK30.55578003
126AURKA0.54603042
127UHMK10.53862093
128CSNK2A10.53536343
129SGK10.52964879
130MAP3K100.52934911
131CAMKK20.52404307
132FGFR10.52277586
133CDK60.51818305
134CDK10.51679604
135CDK140.51575429
136NTRK10.51170831
137ROCK10.51064623
138CDK20.50103384
139CLK10.49262639
140DMPK0.48734103
141MAPK120.48667854
142BCKDK0.47678954
143PRKDC0.47646567
144PRKACA0.47625804
145CSNK1E0.47564417
146CSNK1G30.47442646
147CDK11A0.46945066
148CAMKK10.46338505
149ADRBK10.46048670
150DAPK30.45861326
151BRD40.43572474
152TNIK0.43507896
153FER0.42680845
154RAF10.42387345
155CDC42BPA0.41880566
156CAMK10.40935390
157FLT30.39774264
158KDR0.39680319
159CDK30.39285090
160CDK80.39152382
161STK110.37534404
162TIE10.37385639
163SMG10.37098109
164PRKCH0.36950292
165MAP3K80.34027063
166STK30.33270167
167RPS6KB20.30347430
168CDK40.29339717
169CDK90.24758096
170STK100.22089829
171PAK10.20664720

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.24956875
2Mismatch repair_Homo sapiens_hsa034304.03479526
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.96893154
4Proteasome_Homo sapiens_hsa030503.89368218
5Oxidative phosphorylation_Homo sapiens_hsa001903.55943880
6Non-homologous end-joining_Homo sapiens_hsa034503.33487182
7Synaptic vesicle cycle_Homo sapiens_hsa047213.13054281
8Parkinsons disease_Homo sapiens_hsa050123.10352348
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.08449580
10Collecting duct acid secretion_Homo sapiens_hsa049662.92293891
11Nicotine addiction_Homo sapiens_hsa050332.82502308
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.82439870
13Homologous recombination_Homo sapiens_hsa034402.67805880
14Base excision repair_Homo sapiens_hsa034102.66789838
15Spliceosome_Homo sapiens_hsa030402.64112620
16Ribosome_Homo sapiens_hsa030102.59106764
172-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.57419130
18Cardiac muscle contraction_Homo sapiens_hsa042602.56834128
19RNA polymerase_Homo sapiens_hsa030202.52547508
20RNA transport_Homo sapiens_hsa030132.45283166
21Alzheimers disease_Homo sapiens_hsa050102.31154114
22One carbon pool by folate_Homo sapiens_hsa006702.22592363
23Olfactory transduction_Homo sapiens_hsa047402.21757452
24Nucleotide excision repair_Homo sapiens_hsa034202.21572162
25Cell cycle_Homo sapiens_hsa041102.20008096
26Fanconi anemia pathway_Homo sapiens_hsa034602.13689351
27Huntingtons disease_Homo sapiens_hsa050162.06927310
28Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.03155413
29Protein export_Homo sapiens_hsa030602.00142183
30GABAergic synapse_Homo sapiens_hsa047271.99398099
31Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.82063970
32Circadian entrainment_Homo sapiens_hsa047131.80921206
33RNA degradation_Homo sapiens_hsa030181.80899165
34Pyrimidine metabolism_Homo sapiens_hsa002401.77303298
35Morphine addiction_Homo sapiens_hsa050321.77005205
36Amphetamine addiction_Homo sapiens_hsa050311.71747950
37Glutamatergic synapse_Homo sapiens_hsa047241.63686481
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.63547765
39Dopaminergic synapse_Homo sapiens_hsa047281.63501971
40Basal transcription factors_Homo sapiens_hsa030221.61644903
41Long-term potentiation_Homo sapiens_hsa047201.56801623
42* Pyruvate metabolism_Homo sapiens_hsa006201.53712305
43Taste transduction_Homo sapiens_hsa047421.52701246
44Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.50905108
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.46734706
46Vibrio cholerae infection_Homo sapiens_hsa051101.46540663
47Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.44215987
48Gastric acid secretion_Homo sapiens_hsa049711.43043519
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.43001038
50Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.41762215
51Salivary secretion_Homo sapiens_hsa049701.38937122
52Purine metabolism_Homo sapiens_hsa002301.36402647
53Insulin secretion_Homo sapiens_hsa049111.33653644
54Serotonergic synapse_Homo sapiens_hsa047261.33162765
55Cocaine addiction_Homo sapiens_hsa050301.32240369
56Dilated cardiomyopathy_Homo sapiens_hsa054141.32085161
57mRNA surveillance pathway_Homo sapiens_hsa030151.31985915
58* Propanoate metabolism_Homo sapiens_hsa006401.31174476
59Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29599114
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.29439649
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.28899436
62Butanoate metabolism_Homo sapiens_hsa006501.28312160
63Carbon metabolism_Homo sapiens_hsa012001.23931168
64Calcium signaling pathway_Homo sapiens_hsa040201.23590839
65Vitamin B6 metabolism_Homo sapiens_hsa007501.18516263
66Steroid biosynthesis_Homo sapiens_hsa001001.17446930
67Cholinergic synapse_Homo sapiens_hsa047251.14273417
68Renin secretion_Homo sapiens_hsa049241.13114741
69Long-term depression_Homo sapiens_hsa047301.11391928
70Selenocompound metabolism_Homo sapiens_hsa004501.07712179
71Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.02329865
72Oxytocin signaling pathway_Homo sapiens_hsa049211.02301624
73Fatty acid elongation_Homo sapiens_hsa000621.00225161
74Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.99027237
75Aldosterone synthesis and secretion_Homo sapiens_hsa049250.98169232
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.97924678
77Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.96113022
78Fatty acid metabolism_Homo sapiens_hsa012120.95361966
79Gap junction_Homo sapiens_hsa045400.93156901
80Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.90411216
81p53 signaling pathway_Homo sapiens_hsa041150.87249232
82GnRH signaling pathway_Homo sapiens_hsa049120.87154004
83cGMP-PKG signaling pathway_Homo sapiens_hsa040220.86039321
84Glutathione metabolism_Homo sapiens_hsa004800.85283726
85cAMP signaling pathway_Homo sapiens_hsa040240.82372923
86Folate biosynthesis_Homo sapiens_hsa007900.80628244
87Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.79066026
88Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78918490
89Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.76660117
90Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.75880465
91Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.74480413
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.73454526
93Pentose phosphate pathway_Homo sapiens_hsa000300.70330338
94Fatty acid degradation_Homo sapiens_hsa000710.67874918
95Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.66985221
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.62780987
97Biosynthesis of amino acids_Homo sapiens_hsa012300.61341580
98* Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.60968347
99Oocyte meiosis_Homo sapiens_hsa041140.59389358
100Ovarian steroidogenesis_Homo sapiens_hsa049130.59211125
101Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.58203897
102Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.57810428
103Fatty acid biosynthesis_Homo sapiens_hsa000610.57677465
104Melanogenesis_Homo sapiens_hsa049160.55497901
105Circadian rhythm_Homo sapiens_hsa047100.54639083
106Estrogen signaling pathway_Homo sapiens_hsa049150.54075459
107Phosphatidylinositol signaling system_Homo sapiens_hsa040700.52986414
108Phototransduction_Homo sapiens_hsa047440.52319208
109* Glucagon signaling pathway_Homo sapiens_hsa049220.49762847
110Basal cell carcinoma_Homo sapiens_hsa052170.48299145
111Rheumatoid arthritis_Homo sapiens_hsa053230.46889748
112Sulfur relay system_Homo sapiens_hsa041220.43893763
113Axon guidance_Homo sapiens_hsa043600.42685431
114Dorso-ventral axis formation_Homo sapiens_hsa043200.42271200
115Epstein-Barr virus infection_Homo sapiens_hsa051690.41948632
116Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.38592406
117ErbB signaling pathway_Homo sapiens_hsa040120.38420572
118Hippo signaling pathway_Homo sapiens_hsa043900.38275204
119Wnt signaling pathway_Homo sapiens_hsa043100.37924283
120Thyroid hormone synthesis_Homo sapiens_hsa049180.36724263
121Peroxisome_Homo sapiens_hsa041460.36647917
122Thyroid hormone signaling pathway_Homo sapiens_hsa049190.35691722
123Lysine degradation_Homo sapiens_hsa003100.35100922
124Hedgehog signaling pathway_Homo sapiens_hsa043400.34406722
125Type II diabetes mellitus_Homo sapiens_hsa049300.33349566
126N-Glycan biosynthesis_Homo sapiens_hsa005100.32189305
127Phenylalanine metabolism_Homo sapiens_hsa003600.31202290
128Inositol phosphate metabolism_Homo sapiens_hsa005620.30258556
129Glioma_Homo sapiens_hsa052140.30188684
130Insulin signaling pathway_Homo sapiens_hsa049100.29693767
131TGF-beta signaling pathway_Homo sapiens_hsa043500.29559068
132Pancreatic secretion_Homo sapiens_hsa049720.29376560
133Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.28792384
134Tight junction_Homo sapiens_hsa045300.28748830
135Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.28337974
136Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.26915316
137beta-Alanine metabolism_Homo sapiens_hsa004100.25907149
138MAPK signaling pathway_Homo sapiens_hsa040100.25834204
139Ras signaling pathway_Homo sapiens_hsa040140.25802079
140* Cysteine and methionine metabolism_Homo sapiens_hsa002700.25381457
141Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24664126
142Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.23608245
143* Metabolic pathways_Homo sapiens_hsa011000.22601853
144Phospholipase D signaling pathway_Homo sapiens_hsa040720.22393071
145Pentose and glucuronate interconversions_Homo sapiens_hsa000400.22351295
146Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.22211681
147Alcoholism_Homo sapiens_hsa050340.21670203
148Thyroid cancer_Homo sapiens_hsa052160.21630393
149Choline metabolism in cancer_Homo sapiens_hsa052310.20505823
150Arginine and proline metabolism_Homo sapiens_hsa003300.20456168
151Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.20232876
152Nitrogen metabolism_Homo sapiens_hsa009100.18214216
153Colorectal cancer_Homo sapiens_hsa052100.17316788
154Adherens junction_Homo sapiens_hsa045200.15416146
155Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.15167764
156Central carbon metabolism in cancer_Homo sapiens_hsa052300.10747362
157Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.10081843
158Tryptophan metabolism_Homo sapiens_hsa003800.09087851
159Galactose metabolism_Homo sapiens_hsa000520.07838299
160Viral carcinogenesis_Homo sapiens_hsa052030.05035091
161Drug metabolism - other enzymes_Homo sapiens_hsa009830.05023532
162Fructose and mannose metabolism_Homo sapiens_hsa000510.04490134
163HTLV-I infection_Homo sapiens_hsa051660.04284727
164MicroRNAs in cancer_Homo sapiens_hsa052060.03926394
165Arginine biosynthesis_Homo sapiens_hsa002200.02493188

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