ADAMTS13

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 a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.30295847
2L-phenylalanine catabolic process (GO:0006559)7.30295847
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.94219253
4L-phenylalanine metabolic process (GO:0006558)6.94219253
5aromatic amino acid family catabolic process (GO:0009074)6.57136563
6imidazole-containing compound metabolic process (GO:0052803)6.57051895
7triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.22270538
8indole-containing compound catabolic process (GO:0042436)5.95979653
9indolalkylamine catabolic process (GO:0046218)5.95979653
10tryptophan catabolic process (GO:0006569)5.95979653
11kynurenine metabolic process (GO:0070189)5.79465169
12bile acid biosynthetic process (GO:0006699)5.75925778
13urea metabolic process (GO:0019627)5.72866469
14urea cycle (GO:0000050)5.72866469
15tryptophan metabolic process (GO:0006568)5.58219697
16high-density lipoprotein particle remodeling (GO:0034375)5.56931314
17negative regulation of fibrinolysis (GO:0051918)5.46148941
18glyoxylate metabolic process (GO:0046487)5.43390154
19regulation of fibrinolysis (GO:0051917)5.32868154
20nitrogen cycle metabolic process (GO:0071941)5.23942104
21regulation of protein activation cascade (GO:2000257)5.22922384
22alpha-linolenic acid metabolic process (GO:0036109)5.17680321
23protein carboxylation (GO:0018214)5.15391006
24peptidyl-glutamic acid carboxylation (GO:0017187)5.15391006
25complement activation, alternative pathway (GO:0006957)5.10496237
26regulation of cholesterol esterification (GO:0010872)4.91922499
27bile acid metabolic process (GO:0008206)4.89747348
28sulfur amino acid catabolic process (GO:0000098)4.88134041
29cysteine metabolic process (GO:0006534)4.85117755
30regulation of complement activation (GO:0030449)4.84817515
31reverse cholesterol transport (GO:0043691)4.82174514
32serine family amino acid catabolic process (GO:0009071)4.79442219
33aromatic amino acid family metabolic process (GO:0009072)4.75493705
34fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.75425702
35macromolecular complex remodeling (GO:0034367)4.75034568
36plasma lipoprotein particle remodeling (GO:0034369)4.75034568
37protein-lipid complex remodeling (GO:0034368)4.75034568
38phospholipid efflux (GO:0033700)4.69300870
39tyrosine metabolic process (GO:0006570)4.67868992
40triglyceride homeostasis (GO:0070328)4.66191486
41acylglycerol homeostasis (GO:0055090)4.66191486
42regulation of triglyceride catabolic process (GO:0010896)4.64141967
43alpha-amino acid catabolic process (GO:1901606)4.61047346
44negative regulation of cholesterol transport (GO:0032375)4.58608125
45negative regulation of sterol transport (GO:0032372)4.58608125
46homocysteine metabolic process (GO:0050667)4.57946427
47cell migration in hindbrain (GO:0021535)4.41279539
48lysine catabolic process (GO:0006554)4.39007411
49lysine metabolic process (GO:0006553)4.39007411
50cellular ketone body metabolic process (GO:0046950)4.38065394
51response to pheromone (GO:0019236)4.37609273
52cholesterol efflux (GO:0033344)4.35018939
53plasma lipoprotein particle clearance (GO:0034381)4.29304833
54amino-acid betaine metabolic process (GO:0006577)4.26514167
55regulation of bile acid biosynthetic process (GO:0070857)4.23113542
56bile acid and bile salt transport (GO:0015721)4.22383302
57amine catabolic process (GO:0009310)4.19375632
58cellular biogenic amine catabolic process (GO:0042402)4.19375632
59indolalkylamine metabolic process (GO:0006586)4.17396226
60cellular amino acid catabolic process (GO:0009063)4.17212565
61cellular glucuronidation (GO:0052695)4.16598965
62microtubule severing (GO:0051013)4.15697735
63glutamate metabolic process (GO:0006536)4.15410739
64coenzyme catabolic process (GO:0009109)4.15270835
65plasma lipoprotein particle assembly (GO:0034377)4.10310808
66arginine metabolic process (GO:0006525)4.08090715
67glycine metabolic process (GO:0006544)4.02925401
68low-density lipoprotein particle remodeling (GO:0034374)3.97600759
69drug catabolic process (GO:0042737)3.96734937
70benzene-containing compound metabolic process (GO:0042537)3.94762653
71pyrimidine nucleobase catabolic process (GO:0006208)3.93724923
72dicarboxylic acid biosynthetic process (GO:0043650)3.92975024
73blood coagulation, intrinsic pathway (GO:0007597)3.92867470
74very-low-density lipoprotein particle assembly (GO:0034379)3.92409585
75fibrinolysis (GO:0042730)3.91870843
76aldehyde catabolic process (GO:0046185)3.86902522
77protein polyglutamylation (GO:0018095)3.86650130
78ketone body metabolic process (GO:1902224)3.86426559
79opsonization (GO:0008228)3.84863746
80serine family amino acid metabolic process (GO:0009069)3.83550657
81cellular modified amino acid catabolic process (GO:0042219)3.82085347
82establishment of mitochondrion localization (GO:0051654)3.76999286
83iron coordination entity transport (GO:1901678)3.76527205
84sperm motility (GO:0030317)3.76223733
85uronic acid metabolic process (GO:0006063)3.76105743
86glucuronate metabolic process (GO:0019585)3.76105743
87neuronal ion channel clustering (GO:0045161)3.75651098
88complement activation, classical pathway (GO:0006958)3.74128356
89acrosome reaction (GO:0007340)3.72111024
90protein activation cascade (GO:0072376)3.70289247
91serine family amino acid biosynthetic process (GO:0009070)3.68678022
92cofactor catabolic process (GO:0051187)3.68366417
93phospholipid homeostasis (GO:0055091)3.68142057
94cholesterol homeostasis (GO:0042632)3.67608660
95negative regulation of lipase activity (GO:0060192)3.65504927
96NAD biosynthetic process (GO:0009435)3.65459259
97plasma lipoprotein particle organization (GO:0071827)3.65096521
98complement activation (GO:0006956)3.65011334
99mitochondrion transport along microtubule (GO:0047497)3.64556849
100establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.64556849
101negative regulation of protein activation cascade (GO:2000258)3.64530881
102protein-lipid complex assembly (GO:0065005)3.63036082
103sterol homeostasis (GO:0055092)3.61018043
104carboxylic acid catabolic process (GO:0046395)3.60393911
105organic acid catabolic process (GO:0016054)3.60393911
106ethanol oxidation (GO:0006069)3.58716886
107positive regulation of lipid catabolic process (GO:0050996)3.56199587
108short-chain fatty acid metabolic process (GO:0046459)3.55315307
109nicotinamide nucleotide biosynthetic process (GO:0019359)3.54333416
110pyridine nucleotide biosynthetic process (GO:0019363)3.54333416
111cytolysis (GO:0019835)3.53617478
112acute-phase response (GO:0006953)3.51627191
113exogenous drug catabolic process (GO:0042738)3.50985598
114epoxygenase P450 pathway (GO:0019373)3.41103513
115sperm capacitation (GO:0048240)3.26699620
116omega-hydroxylase P450 pathway (GO:0097267)3.24988701
117positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.22608242
118regulation of short-term neuronal synaptic plasticity (GO:0048172)3.21054901
119calcium ion-dependent exocytosis (GO:0017156)3.17304833
120nucleobase catabolic process (GO:0046113)3.13915477
121axon extension (GO:0048675)3.13701828
122body morphogenesis (GO:0010171)3.12618866
123regulation of ARF GTPase activity (GO:0032312)3.06207026
124synaptic vesicle docking involved in exocytosis (GO:0016081)3.05126834
125regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.02714050
126oxidative demethylation (GO:0070989)3.01677009
127regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.00031715
128fusion of sperm to egg plasma membrane (GO:0007342)2.99352899
129dendritic spine morphogenesis (GO:0060997)2.99066355
130axonal fasciculation (GO:0007413)2.98636245
131locomotory exploration behavior (GO:0035641)2.96536269
132regulation of respiratory system process (GO:0044065)2.93659419
133glutamate secretion (GO:0014047)2.89716297
134neuron projection extension (GO:1990138)2.88615735
135arginine catabolic process (GO:0006527)2.84801611
136regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.81453968
137neuron recognition (GO:0008038)2.80795608
138auditory behavior (GO:0031223)2.78816148
139response to acidic pH (GO:0010447)2.78282456
140postsynaptic membrane organization (GO:0001941)2.77603445
141camera-type eye morphogenesis (GO:0048593)2.73906337
142positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.73356538
143neurotransmitter-gated ion channel clustering (GO:0072578)2.72901977
144positive regulation of action potential (GO:0045760)2.69863240
145regulation of microtubule-based movement (GO:0060632)2.69048068
146spermatid development (GO:0007286)2.68578802
147negative regulation of organelle assembly (GO:1902116)2.68294022
148semaphorin-plexin signaling pathway (GO:0071526)2.67750554
149response to misfolded protein (GO:0051788)2.67017260
150negative regulation of catenin import into nucleus (GO:0035414)2.66429672
151regulation of Rab GTPase activity (GO:0032313)2.65617306
152positive regulation of Rab GTPase activity (GO:0032851)2.65617306
153nephron tubule morphogenesis (GO:0072078)2.64290261
154nephron epithelium morphogenesis (GO:0072088)2.64290261
155embryonic body morphogenesis (GO:0010172)2.62602204
156synaptic vesicle exocytosis (GO:0016079)2.61940969
157exploration behavior (GO:0035640)2.61804617
158acetyl-CoA metabolic process (GO:0006084)2.60018518
159positive regulation of synapse maturation (GO:0090129)2.59994110
160cell-cell junction maintenance (GO:0045217)2.56779494
161lung epithelium development (GO:0060428)2.54537221
162dendritic spine organization (GO:0097061)2.54069453
163cranial nerve morphogenesis (GO:0021602)2.53159041
164negative regulation of synaptic transmission, GABAergic (GO:0032229)2.52283942
165neuronal action potential propagation (GO:0019227)2.51926133
166adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.48228456
167phosphatidylethanolamine biosynthetic process (GO:0006646)2.48066609
168synaptic vesicle maturation (GO:0016188)2.46967958
169regulation of plasminogen activation (GO:0010755)2.46737365
170protein localization to synapse (GO:0035418)2.44461644
171metanephric tubule development (GO:0072170)2.43716290
172metanephric nephron tubule development (GO:0072234)2.43716290
173regulation of hydrogen peroxide metabolic process (GO:0010310)2.42566864
174regulation of action potential (GO:0098900)2.41962013
175regulation of glutamate receptor signaling pathway (GO:1900449)2.41946357
176establishment or maintenance of monopolar cell polarity (GO:0061339)2.40337263
177establishment of monopolar cell polarity (GO:0061162)2.40337263
178regulation of axon extension involved in axon guidance (GO:0048841)2.39796588
179establishment of protein localization to Golgi (GO:0072600)2.39276673
180macroautophagy (GO:0016236)2.38612090
181peptidyl-glutamic acid modification (GO:0018200)2.38106773
182regulation of synaptic vesicle exocytosis (GO:2000300)2.37623422
183microtubule bundle formation (GO:0001578)2.37536430

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.83780854
2EGR1_23403033_ChIP-Seq_LIVER_Mouse6.75605515
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.64145479
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.11374489
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.99778330
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.81901642
7EZH2_22144423_ChIP-Seq_EOC_Human4.65609451
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.55596442
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.46463210
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.87831823
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.61733646
12EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.72701713
13DROSHA_22980978_ChIP-Seq_HELA_Human2.51950799
14EZH2_27294783_Chip-Seq_ESCs_Mouse2.30763379
15SUZ12_27294783_Chip-Seq_ESCs_Mouse2.23573151
16CTCF_27219007_Chip-Seq_Bcells_Human2.15824677
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.06407917
18CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.05314703
19ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.1585754
20JARID2_20075857_ChIP-Seq_MESCs_Mouse1.96445648
21GATA1_22025678_ChIP-Seq_K562_Human1.94761924
22REST_21632747_ChIP-Seq_MESCs_Mouse1.92289508
23TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.90226934
24JARID2_20064375_ChIP-Seq_MESCs_Mouse1.88544207
25RNF2_18974828_ChIP-Seq_MESCs_Mouse1.88529286
26EZH2_18974828_ChIP-Seq_MESCs_Mouse1.88529286
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84943767
28SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.83168172
29P68_20966046_ChIP-Seq_HELA_Human1.82929736
30RNF2_27304074_Chip-Seq_ESCs_Mouse1.81984788
31* SMC4_20622854_ChIP-Seq_HELA_Human1.81566242
32KDM2B_26808549_Chip-Seq_K562_Human1.77844371
33HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.77309835
34EED_16625203_ChIP-ChIP_MESCs_Mouse1.76634844
35* REST_18959480_ChIP-ChIP_MESCs_Mouse1.71822622
36* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.65800712
37DNAJC2_21179169_ChIP-ChIP_NT2_Human1.61762152
38THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.60043375
39MTF2_20144788_ChIP-Seq_MESCs_Mouse1.57929562
40FOXA2_19822575_ChIP-Seq_HepG2_Human1.57081756
41RARB_27405468_Chip-Seq_BRAIN_Mouse1.54269289
42SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.53714212
43SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.53686009
44ELF1_20517297_ChIP-Seq_JURKAT_Human1.52726023
45CBX2_27304074_Chip-Seq_ESCs_Mouse1.48756849
46ZFP281_18757296_ChIP-ChIP_E14_Mouse1.46465162
47SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.46129953
48TET1_21451524_ChIP-Seq_MESCs_Mouse1.43133840
49TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.42951307
50RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.40727057
51CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.39090831
52E2F1_20622854_ChIP-Seq_HELA_Human1.38143076
53HTT_18923047_ChIP-ChIP_STHdh_Human1.36513093
54SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.36336591
55TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.34749210
56HNF4A_19822575_ChIP-Seq_HepG2_Human1.34482130
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.34336079
58SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.32458175
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.31785762
60* BCL6_27268052_Chip-Seq_Bcells_Human1.31748630
61TP53_20018659_ChIP-ChIP_R1E_Mouse1.31300270
62SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.29615567
63SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.29235633
64TET1_21490601_ChIP-Seq_MESCs_Mouse1.28937199
65SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.28044777
66PHF8_20622854_ChIP-Seq_HELA_Human1.27525707
67PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27401847
68OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.27113262
69CREB1_26743006_Chip-Seq_LNCaP_Human1.26660325
70OCT4_19829295_ChIP-Seq_ESCs_Human1.25347761
71CLOCK_20551151_ChIP-Seq_293T_Human1.23755109
72PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.22903902
73MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.18914706
74KDM2B_26808549_Chip-Seq_SUP-B15_Human1.17741219
75STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.17543973
76ZFP281_27345836_Chip-Seq_ESCs_Mouse1.17193498
77WDR5_24793694_ChIP-Seq_LNCAP_Human1.16411167
78TP63_22573176_ChIP-Seq_HFKS_Human1.15735135
79* BCOR_27268052_Chip-Seq_Bcells_Human1.13663006
80* ERA_21632823_ChIP-Seq_H3396_Human1.13449157
81YY1_22570637_ChIP-Seq_MALME-3M_Human1.09069100
82CTCF_20526341_ChIP-Seq_ESCs_Human1.07891020
83IKZF1_21737484_ChIP-ChIP_HCT116_Human1.07774563
84TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07236988
85POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.07236988
86RING1B_27294783_Chip-Seq_NPCs_Mouse1.07054612
87SA1_27219007_Chip-Seq_ERYTHROID_Human1.06926017
88TP53_22127205_ChIP-Seq_IMR90_Human1.05629407
89RXRA_24833708_ChIP-Seq_LIVER_Mouse1.04761978
90TAF15_26573619_Chip-Seq_HEK293_Human1.04426438
91EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.03139181
92UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.01877740
93KLF4_19829295_ChIP-Seq_ESCs_Human1.00796972
94ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.99871101
95NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.99830927
96RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.99528762
97SA1_27219007_Chip-Seq_Bcells_Human0.99395426
98EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.98927438
99IRF8_22096565_ChIP-ChIP_GC-B_Human0.98574642
100IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.98166894
101RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.96659906
102BMI1_23680149_ChIP-Seq_NPCS_Mouse0.92459908
103NFIB_24661679_ChIP-Seq_LUNG_Mouse0.91492204
104BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.91082534
105KDM2B_26808549_Chip-Seq_DND41_Human0.90987907
106RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.90810894
107TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.89581454
108OCT4_20526341_ChIP-Seq_ESCs_Human0.89206460
109GBX2_23144817_ChIP-Seq_PC3_Human0.88589824
110FOXP1_21924763_ChIP-Seq_HESCs_Human0.88301940
111* TP53_23651856_ChIP-Seq_MEFs_Mouse0.88083095
112KAP1_22055183_ChIP-Seq_ESCs_Mouse0.87683723
113SOX3_22085726_ChIP-Seq_NPCs_Mouse0.87431159
114SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.87306062
115ESR1_15608294_ChIP-ChIP_MCF-7_Human0.83264674
116AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83218731
117STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.83201179
118SOX2_27498859_Chip-Seq_STOMACH_Mouse0.81404115
119EGR1_19032775_ChIP-ChIP_M12_Human0.81102305
120NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.79506832
121NRF2_20460467_ChIP-Seq_MEFs_Mouse0.79506832
122Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.79094422
123GATA4_25053715_ChIP-Seq_YYC3_Human0.78013530
124ERG_21242973_ChIP-ChIP_JURKAT_Human0.75387973
125ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.75068944
126ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.74801318
127RAD21_21589869_ChIP-Seq_MESCs_Mouse0.72856197
128ESR2_21235772_ChIP-Seq_MCF-7_Human0.72549510
129BCAT_22108803_ChIP-Seq_LS180_Human0.69310041
130PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.68861626
131NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.68610263
132* STAT1_17558387_ChIP-Seq_HELA_Human0.68045766
133TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.66300997
134GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.66057848
135RARA_24833708_ChIP-Seq_LIVER_Mouse0.64684120
136PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.64619045
137PIAS1_25552417_ChIP-Seq_VCAP_Human0.64550948
138MYC_19915707_ChIP-ChIP_AK7_Human0.63691044
139SALL4_18804426_ChIP-ChIP_XEN_Mouse0.61737701
140CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.58749300
141BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.58726961
142FOXA1_25552417_ChIP-Seq_VCAP_Human0.56629512
143AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.56255842
144CEBPB_22108803_ChIP-Seq_LS180_Human0.55915737
145VDR_22108803_ChIP-Seq_LS180_Human0.55036922
146RARB_24833708_ChIP-Seq_LIVER_Mouse0.53955473
147RUNX1_27457419_Chip-Seq_LIVER_Mouse0.53637159
148SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.53111193
149ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.52799783
150ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.52757060
151EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.52211532
152TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.52096143
153AR_20517297_ChIP-Seq_VCAP_Human0.51826107
154ESR1_21235772_ChIP-Seq_MCF-7_Human0.51658117
155CBP_21632823_ChIP-Seq_H3396_Human0.51534997
156GATA1_19941827_ChIP-Seq_MEL_Mouse0.51255215
157NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.50277282
158PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.49905946
159CDX2_22108803_ChIP-Seq_LS180_Human0.49786802
160RARG_19884340_ChIP-ChIP_MEFs_Mouse0.49746250
161SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.49519597
162NFE2_27457419_Chip-Seq_LIVER_Mouse0.48746629
163FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.48591295
164FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.48531041
165OCT4_21477851_ChIP-Seq_ESCs_Mouse0.48362936
166SUZ12_27294783_Chip-Seq_NPCs_Mouse0.48174000
167ESET_19884257_ChIP-Seq_ESCs_Mouse0.48052663
168CBP_20019798_ChIP-Seq_JUKART_Human0.48026531
169IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.48026531
170AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.47890375
171EZH2_27294783_Chip-Seq_NPCs_Mouse0.47540475
172STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.46687933
173GATA2_19941826_ChIP-Seq_K562_Human0.46267653
174GATA1_19941826_ChIP-Seq_K562_Human0.46211157
175CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.46063282
176NCOR_22424771_ChIP-Seq_293T_Human0.45976442
177MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.44899674
178P53_21459846_ChIP-Seq_SAOS-2_Human0.44820546
179TAF2_19829295_ChIP-Seq_ESCs_Human0.44095597
180CRX_20693478_ChIP-Seq_RETINA_Mouse0.43851230
181MYC_27129775_Chip-Seq_CORNEA_Mouse0.43731986
182LXR_22292898_ChIP-Seq_THP-1_Human0.43566172
183SOX2_20726797_ChIP-Seq_SW620_Human0.43130844
184SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.42953767
185TP53_18474530_ChIP-ChIP_U2OS_Human0.42178361
186FOXO3_23340844_ChIP-Seq_DLD1_Human0.41965942

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.02612071
2MP0005360_urolithiasis7.20293875
3MP0005085_abnormal_gallbladder_physiolo6.38103757
4MP0005365_abnormal_bile_salt5.94007460
5MP0008875_abnormal_xenobiotic_pharmacok4.97971895
6MP0003806_abnormal_nucleotide_metabolis3.91866318
7MP0004859_abnormal_synaptic_plasticity3.91181082
8MP0003252_abnormal_bile_duct3.67701343
9MP0010329_abnormal_lipoprotein_level3.48868262
10MP0005083_abnormal_biliary_tract2.99439153
11MP0009840_abnormal_foam_cell2.92720105
12MP0002254_reproductive_system_inflammat2.87882170
13MP0003195_calcinosis2.82591378
14MP0005423_abnormal_somatic_nervous2.75199751
15MP0000566_synostosis2.62890417
16MP0005332_abnormal_amino_acid2.60475567
17MP0003122_maternal_imprinting2.57899948
18MP0003787_abnormal_imprinting2.51963159
19MP0002876_abnormal_thyroid_physiology2.47458698
20MP0002138_abnormal_hepatobiliary_system2.44190452
21MP0005410_abnormal_fertilization2.41516433
22MP0003283_abnormal_digestive_organ2.36541272
23MP0001666_abnormal_nutrient_absorption2.35755573
24MP0003880_abnormal_central_pattern2.35328989
25MP0003191_abnormal_cellular_cholesterol2.12251731
26MP0000609_abnormal_liver_physiology2.11564973
27MP0006292_abnormal_olfactory_placode2.10543633
28MP0003868_abnormal_feces_composition2.07548800
29MP0002118_abnormal_lipid_homeostasis2.03398058
30MP0002249_abnormal_larynx_morphology1.98127503
31MP0003635_abnormal_synaptic_transmissio1.96203937
32MP0001764_abnormal_homeostasis1.95439364
33MP0004019_abnormal_vitamin_homeostasis1.93655507
34MP0000778_abnormal_nervous_system1.90826675
35MP0005377_hearing/vestibular/ear_phenot1.85354728
36MP0003878_abnormal_ear_physiology1.85354728
37MP0003123_paternal_imprinting1.75699503
38MP0005319_abnormal_enzyme/_coenzyme1.75594452
39MP0002063_abnormal_learning/memory/cond1.71975728
40MP0009697_abnormal_copulation1.69574509
41MP0002734_abnormal_mechanical_nocicepti1.69093290
42MP0002572_abnormal_emotion/affect_behav1.68694820
43MP0004270_analgesia1.68066829
44MP0000955_abnormal_spinal_cord1.64374738
45MP0005647_abnormal_sex_gland1.60341758
46MP0003121_genomic_imprinting1.59384025
47MP0001984_abnormal_olfaction1.55358989
48MP0001502_abnormal_circadian_rhythm1.51865374
49MP0002272_abnormal_nervous_system1.45138896
50MP0001970_abnormal_pain_threshold1.45112783
51MP0009745_abnormal_behavioral_response1.44218896
52MP0002557_abnormal_social/conspecific_i1.42923583
53MP0005584_abnormal_enzyme/coenzyme_acti1.42920432
54MP0001486_abnormal_startle_reflex1.40100709
55MP0002064_seizures1.39956186
56MP0005394_taste/olfaction_phenotype1.38355305
57MP0005499_abnormal_olfactory_system1.38355305
58MP0005451_abnormal_body_composition1.37077082
59MP0006276_abnormal_autonomic_nervous1.36393783
60MP0003656_abnormal_erythrocyte_physiolo1.34582912
61MP0002184_abnormal_innervation1.33214997
62MP0003698_abnormal_male_reproductive1.31975646
63MP0004742_abnormal_vestibular_system1.27721855
64MP0002653_abnormal_ependyma_morphology1.23968069
65MP0003172_abnormal_lysosome_physiology1.23471332
66MP0002733_abnormal_thermal_nociception1.23345815
67MP0001968_abnormal_touch/_nociception1.22972054
68MP0009643_abnormal_urine_homeostasis1.21410297
69MP0000049_abnormal_middle_ear1.20975618
70MP0000534_abnormal_ureter_morphology1.20396355
71MP0002882_abnormal_neuron_morphology1.18762772
72MP0008569_lethality_at_weaning1.17581714
73MP0000003_abnormal_adipose_tissue1.14105128
74MP0000026_abnormal_inner_ear1.12664979
75MP0003186_abnormal_redox_activity1.12237974
76MP0000604_amyloidosis1.12058125
77MP0009046_muscle_twitch1.11889391
78MP0000685_abnormal_immune_system1.11560753
79MP0000598_abnormal_liver_morphology1.10863759
80MP0002067_abnormal_sensory_capabilities1.10650751
81MP0010030_abnormal_orbit_morphology1.10291414
82MP0008877_abnormal_DNA_methylation1.09328944
83MP0005551_abnormal_eye_electrophysiolog1.06346952
84MP0004133_heterotaxia1.02487415
85MP0000678_abnormal_parathyroid_gland1.02478595
86MP0003942_abnormal_urinary_system1.00606868
87* MP0009764_decreased_sensitivity_to0.99880785
88MP0002234_abnormal_pharynx_morphology0.99307097
89MP0009763_increased_sensitivity_to0.99160673
90MP0005636_abnormal_mineral_homeostasis0.97593230
91MP0002752_abnormal_somatic_nervous0.97253020
92MP0004811_abnormal_neuron_physiology0.96690936
93MP0002282_abnormal_trachea_morphology0.96281130
94MP0004145_abnormal_muscle_electrophysio0.95347777
95MP0003938_abnormal_ear_development0.95038063
96MP0001963_abnormal_hearing_physiology0.93270694
97MP0002971_abnormal_brown_adipose0.92892627
98MP0002152_abnormal_brain_morphology0.92367666
99MP0008789_abnormal_olfactory_epithelium0.91474273
100MP0005386_behavior/neurological_phenoty0.90350110
101MP0004924_abnormal_behavior0.90350110
102MP0003861_abnormal_nervous_system0.89638854
103* MP0008469_abnormal_protein_level0.89461969
104MP0003011_delayed_dark_adaptation0.88663584
105MP0001485_abnormal_pinna_reflex0.87179750
106MP0005376_homeostasis/metabolism_phenot0.84971982
107MP0002066_abnormal_motor_capabilities/c0.84451520
108* MP0009642_abnormal_blood_homeostasis0.83316688
109MP0002161_abnormal_fertility/fecundity0.83217168
110MP0002932_abnormal_joint_morphology0.82155805
111MP0005535_abnormal_body_temperature0.82015178
112MP0001529_abnormal_vocalization0.81886994
113MP0001440_abnormal_grooming_behavior0.81626932
114MP0003385_abnormal_body_wall0.81616031
115MP0002078_abnormal_glucose_homeostasis0.80865436
116MP0001188_hyperpigmentation0.80556589
117MP0003119_abnormal_digestive_system0.79318296
118MP0001299_abnormal_eye_distance/0.78916821
119MP0005334_abnormal_fat_pad0.76762284
120MP0000751_myopathy0.75930561
121MP0006036_abnormal_mitochondrial_physio0.75889290
122MP0003705_abnormal_hypodermis_morpholog0.74747735
123MP0009384_cardiac_valve_regurgitation0.74522995
124MP0001929_abnormal_gametogenesis0.74288444
125MP0002116_abnormal_craniofacial_bone0.72301137
126MP0004142_abnormal_muscle_tone0.71478397
127* MP0009765_abnormal_xenobiotic_induced0.71138137
128MP0006082_CNS_inflammation0.71062841
129MP0005408_hypopigmentation0.70889820
130MP0005448_abnormal_energy_balance0.70688949
131MP0003329_amyloid_beta_deposits0.70633366
132MP0003638_abnormal_response/metabolism_0.69169372
133MP0002069_abnormal_eating/drinking_beha0.68956800
134MP0010368_abnormal_lymphatic_system0.68025031
135MP0008872_abnormal_physiological_respon0.66025044
136MP0005084_abnormal_gallbladder_morpholo0.63990449
137MP0005645_abnormal_hypothalamus_physiol0.63348547
138MP0001835_abnormal_antigen_presentation0.60404319
139MP0001756_abnormal_urination0.60207140
140MP0002837_dystrophic_cardiac_calcinosis0.59647048
141MP0000639_abnormal_adrenal_gland0.59283299
142MP0003879_abnormal_hair_cell0.58889097
143MP0005220_abnormal_exocrine_pancreas0.58702671
144MP0005266_abnormal_metabolism0.58580987
145MP0003690_abnormal_glial_cell0.57592738
146MP0001853_heart_inflammation0.57102050
147MP0004510_myositis0.55710175
148MP0002735_abnormal_chemical_nociception0.51108216
149MP0002822_catalepsy0.51094142
150* MP0008874_decreased_physiological_sensi0.50671662
151MP0001346_abnormal_lacrimal_gland0.49083685
152MP0009053_abnormal_anal_canal0.48583997
153MP0004381_abnormal_hair_follicle0.46844898
154MP0009115_abnormal_fat_cell0.46416011
155MP0003953_abnormal_hormone_level0.45882788
156MP0002928_abnormal_bile_duct0.45868104
157MP0004782_abnormal_surfactant_physiolog0.45003369
158MP0002136_abnormal_kidney_physiology0.44281439
159MP0003436_decreased_susceptibility_to0.43742002
160MP0001881_abnormal_mammary_gland0.43526693
161MP0001348_abnormal_lacrimal_gland0.42540095
162MP0005670_abnormal_white_adipose0.41799030
163MP0004130_abnormal_muscle_cell0.41460359
164MP0004147_increased_porphyrin_level0.41226225
165MP0003959_abnormal_lean_body0.39922144
166MP0003075_altered_response_to0.39709164
167* MP0005464_abnormal_platelet_physiology0.39490494
168MP0001845_abnormal_inflammatory_respons0.38758924
169MP0005395_other_phenotype0.36928110
170MP0001873_stomach_inflammation0.36896978
171MP0003724_increased_susceptibility_to0.35696767
172MP0006035_abnormal_mitochondrial_morpho0.35583549
173MP0002970_abnormal_white_adipose0.32183271
174MP0005166_decreased_susceptibility_to0.32119769
175MP0003718_maternal_effect0.31541970
176MP0001661_extended_life_span0.30937291
177MP0000579_abnormal_nail_morphology0.30888939
178MP0002796_impaired_skin_barrier0.29300630
179MP0001501_abnormal_sleep_pattern0.28997559
180MP0008873_increased_physiological_sensi0.28809957
181MP0000538_abnormal_urinary_bladder0.28529589

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.11758875
2Deep venous thrombosis (HP:0002625)7.10885803
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.09129430
4Prolonged partial thromboplastin time (HP:0003645)6.63529452
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.30984347
6Hypobetalipoproteinemia (HP:0003563)6.25582591
7Xanthomatosis (HP:0000991)5.97616178
8Hyperlipoproteinemia (HP:0010980)5.11220437
9Complement deficiency (HP:0004431)5.00702650
10Joint hemorrhage (HP:0005261)4.71283303
11Hypolipoproteinemia (HP:0010981)4.60492848
12Hyperammonemia (HP:0001987)4.55328862
13Myokymia (HP:0002411)4.48603669
14Abnormality of the common coagulation pathway (HP:0010990)4.44041781
15Abnormality of glutamine family amino acid metabolism (HP:0010902)4.42712446
16Ketosis (HP:0001946)4.38658580
17Epidermoid cyst (HP:0200040)4.37744489
18Hyperglycinemia (HP:0002154)4.20878050
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.12760024
20Hyperglycinuria (HP:0003108)4.10721462
21Fat malabsorption (HP:0002630)4.04222414
22Abnormality of glycine metabolism (HP:0010895)4.01731647
23Abnormality of serine family amino acid metabolism (HP:0010894)4.01731647
24Hypoalphalipoproteinemia (HP:0003233)3.96548266
25Abnormality of methionine metabolism (HP:0010901)3.91522804
26Abnormality of aspartate family amino acid metabolism (HP:0010899)3.91433640
27Abnormality of sulfur amino acid metabolism (HP:0004339)3.86565651
28Progressive cerebellar ataxia (HP:0002073)3.80823081
29Conjugated hyperbilirubinemia (HP:0002908)3.79347596
30Abnormality of the intrinsic pathway (HP:0010989)3.68322298
31Abnormality of pyrimidine metabolism (HP:0004353)3.66302495
32Abnormality of complement system (HP:0005339)3.64957666
33Hypoglycemic coma (HP:0001325)3.64913515
34Abnormality of the aortic arch (HP:0012303)3.59526755
35Ketoacidosis (HP:0001993)3.48272990
36Hypercholesterolemia (HP:0003124)3.37800962
37Hyperbilirubinemia (HP:0002904)3.35630021
38Spontaneous abortion (HP:0005268)3.22682077
39Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.18342075
40Abnormality of fatty-acid metabolism (HP:0004359)3.09271608
41Turricephaly (HP:0000262)3.05835572
42Peritonitis (HP:0002586)3.04050775
43Hypochromic microcytic anemia (HP:0004840)3.03375382
44Abnormality of nucleobase metabolism (HP:0010932)3.00901395
45Abnormality of serum amino acid levels (HP:0003112)2.98263469
46Cholelithiasis (HP:0001081)2.97659363
47Abnormal gallbladder morphology (HP:0012437)2.97165400
48Hepatocellular carcinoma (HP:0001402)2.92804997
49Delayed CNS myelination (HP:0002188)2.92549563
50Steatorrhea (HP:0002570)2.90350895
51Systemic lupus erythematosus (HP:0002725)2.78691788
52Acanthocytosis (HP:0001927)2.77736760
53Skin nodule (HP:0200036)2.76123618
54Myocardial infarction (HP:0001658)2.76028159
55Metabolic acidosis (HP:0001942)2.68885364
56Abnormality of purine metabolism (HP:0004352)2.68200844
57Recurrent gram-negative bacterial infections (HP:0005420)2.64958540
58Obstructive sleep apnea (HP:0002870)2.60978890
59Hydroxyprolinuria (HP:0003080)2.60866396
60Abnormality of proline metabolism (HP:0010907)2.60866396
61Mitral stenosis (HP:0001718)2.57065541
62Focal seizures (HP:0007359)2.56513057
63Renovascular hypertension (HP:0100817)2.55983159
64Lymphangioma (HP:0100764)2.53761955
65Hyperthyroidism (HP:0000836)2.51130060
66Lethargy (HP:0001254)2.48093841
67Severe visual impairment (HP:0001141)2.47794572
68Amyloidosis (HP:0011034)2.47587338
69Gout (HP:0001997)2.47525865
70Cerebral edema (HP:0002181)2.46878247
71Tubulointerstitial nephritis (HP:0001970)2.46489537
72Abnormal gallbladder physiology (HP:0012438)2.43844881
73Cholecystitis (HP:0001082)2.43844881
74Abnormality of the gallbladder (HP:0005264)2.41219340
75Gingival bleeding (HP:0000225)2.38571996
76Focal motor seizures (HP:0011153)2.36698163
77Neoplasm of the heart (HP:0100544)2.36195072
78Hypoglycemic seizures (HP:0002173)2.35080532
79Abnormality of transition element cation homeostasis (HP:0011030)2.34690812
80Vascular calcification (HP:0004934)2.32096528
81Shawl scrotum (HP:0000049)2.30382792
82Abnormality of dicarboxylic acid metabolism (HP:0010995)2.29897704
83Dicarboxylic aciduria (HP:0003215)2.29897704
84Glomerulonephritis (HP:0000099)2.26548549
85Neonatal onset (HP:0003623)2.26375481
86Atelectasis (HP:0100750)2.25689529
87Enlarged kidneys (HP:0000105)2.24619753
88* Poikilocytosis (HP:0004447)2.23524755
89Sleep apnea (HP:0010535)2.22513761
90High anterior hairline (HP:0009890)2.20258273
91Hypoplastic ischia (HP:0003175)2.19721068
92Esophageal varix (HP:0002040)2.17781283
93Bell-shaped thorax (HP:0001591)2.16272939
94Irritability (HP:0000737)2.14330507
95Abnormality of iron homeostasis (HP:0011031)2.13900404
96Thrombophlebitis (HP:0004418)2.13770855
97Spastic diplegia (HP:0001264)2.13717802
98Sensorimotor neuropathy (HP:0007141)2.09733213
99Brushfield spots (HP:0001088)2.08823245
100Malnutrition (HP:0004395)2.08203266
101Menorrhagia (HP:0000132)2.07020079
102Down-sloping shoulders (HP:0200021)2.06652699
103Opisthotonus (HP:0002179)2.05536978
104Broad metatarsal (HP:0001783)2.05514924
105Neonatal hypoglycemia (HP:0001998)2.04891945
106Abnormality of dentin (HP:0010299)2.04281678
107Amblyopia (HP:0000646)2.03462238
108Cardiovascular calcification (HP:0011915)2.02889226
109Vomiting (HP:0002013)2.01590375
110Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.01375743
111Pancreatitis (HP:0001733)1.99755886
112Genetic anticipation (HP:0003743)1.99049511
113Hyperinsulinemic hypoglycemia (HP:0000825)1.97877059
114Nephronophthisis (HP:0000090)1.97035751
115Flattened epiphyses (HP:0003071)1.94036761
116Hyperglycemia (HP:0003074)1.92675486
117Hyperventilation (HP:0002883)1.92231008
118Epileptic encephalopathy (HP:0200134)1.91851404
119Stage 5 chronic kidney disease (HP:0003774)1.91468389
120Thin bony cortex (HP:0002753)1.91364901
121Late onset (HP:0003584)1.91188776
122Status epilepticus (HP:0002133)1.90554647
123Severe Myopia (HP:0011003)1.89965968
124Abnormality of the ischium (HP:0003174)1.88742503
125Hyperkalemia (HP:0002153)1.88124193
126Polycystic kidney dysplasia (HP:0000113)1.86665880
127Agitation (HP:0000713)1.86375702
128Renal dysplasia (HP:0000110)1.84914528
129Rib fusion (HP:0000902)1.84096322
130Renal cortical cysts (HP:0000803)1.82609607
131Elevated hepatic transaminases (HP:0002910)1.82129721
132Hemorrhage of the eye (HP:0011885)1.81545966
133Rickets (HP:0002748)1.80379767
134Hypercalciuria (HP:0002150)1.80364965
135Hypophosphatemic rickets (HP:0004912)1.78865801
136Truncal obesity (HP:0001956)1.78662700
137Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.77287876
138Absent epiphyses (HP:0010577)1.77287876
139Infertility (HP:0000789)1.76770512
140Generalized aminoaciduria (HP:0002909)1.76721908
141J-shaped sella turcica (HP:0002680)1.76133822
142Occipital encephalocele (HP:0002085)1.75271235
143Chronic hepatic failure (HP:0100626)1.75194220
144Impaired vibration sensation in the lower limbs (HP:0002166)1.75053740
145Hyperacusis (HP:0010780)1.73801409
146Dynein arm defect of respiratory motile cilia (HP:0012255)1.73540723
147Absent/shortened dynein arms (HP:0200106)1.73540723
148Shallow orbits (HP:0000586)1.73488276
149Increased purine levels (HP:0004368)1.73324092
150Hyperuricemia (HP:0002149)1.73324092
151Polyphagia (HP:0002591)1.73052305
152Impulsivity (HP:0100710)1.72984540
153Acute hepatic failure (HP:0006554)1.72820572
154Precocious puberty (HP:0000826)1.72701906
155Nephritis (HP:0000123)1.72542309
156Bony spicule pigmentary retinopathy (HP:0007737)1.72179043
157Gait imbalance (HP:0002141)1.71998615
158Abnormal enzyme/coenzyme activity (HP:0012379)1.71790882
159Bronchomalacia (HP:0002780)1.71706408
160Distal upper limb amyotrophy (HP:0007149)1.71355520
161Upper limb amyotrophy (HP:0009129)1.71355520
162Cystic liver disease (HP:0006706)1.70637675
163Male infertility (HP:0003251)1.66694737
164Type II lissencephaly (HP:0007260)1.66300984
165Truncus arteriosus (HP:0001660)1.64344444
166Peripheral hypomyelination (HP:0007182)1.64106277
167Hand muscle atrophy (HP:0009130)1.63216420
168Abnormality of the renal medulla (HP:0100957)1.62315561
169Torticollis (HP:0000473)1.61519185
170Abnormality of the corticospinal tract (HP:0002492)1.60709363
171Trigonocephaly (HP:0000243)1.58999567
172Abnormality of the lower motor neuron (HP:0002366)1.58404301
173Aplasia involving bones of the upper limbs (HP:0009823)1.56560201
174Aplasia of the phalanges of the hand (HP:0009802)1.56560201
175Aplasia involving bones of the extremities (HP:0009825)1.56560201
176Supranuclear gaze palsy (HP:0000605)1.54560417
177Stridor (HP:0010307)1.53837309
178Hypoplasia of the brainstem (HP:0002365)1.53622859
179Aplasia/Hypoplasia of the brainstem (HP:0007362)1.53622859
180Long palpebral fissure (HP:0000637)1.52778154
181Mitral regurgitation (HP:0001653)1.51126183
182Ulnar bowing (HP:0003031)1.50517507
183Febrile seizures (HP:0002373)1.49420953
184Osteomalacia (HP:0002749)1.49222330
185Asymmetric septal hypertrophy (HP:0001670)1.49097621
186Urinary bladder sphincter dysfunction (HP:0002839)1.48587445
187Distal lower limb amyotrophy (HP:0008944)1.47776980

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.58663445
2FGFR44.39162876
3ERN14.13511551
4SIK14.01265492
5MARK13.35568293
6MAP3K142.90995279
7ICK2.87565988
8TRIB32.84065727
9INSRR2.73402789
10TAOK32.67006431
11DAPK22.62182029
12DDR22.54098296
13MAP2K42.54019035
14ERBB42.50030839
15PRKD32.36075829
16MAP3K92.30378618
17TYRO32.27876854
18NTRK22.26039819
19MST1R2.18554040
20PNCK2.06769703
21PIK3CG2.02691549
22EPHB21.92880770
23GRK61.85654394
24TYK21.79341173
25CAMK1G1.72487514
26LMTK21.70328699
27BRD41.67804018
28FLT31.62490725
29MAPK111.61935087
30NME11.59589596
31PLK41.54663164
32BMPR21.52187378
33FRK1.46184542
34PINK11.45662903
35JAK21.45296004
36TESK11.40417425
37STK381.37807110
38EPHA31.36585507
39WNK41.35794162
40PTK61.35425123
41TBK11.35165205
42IRAK31.33798647
43PKN21.33002357
44TNK21.32302721
45RIPK11.29554232
46AKT31.27623766
47MAP3K71.24666715
48EPHA41.24281659
49ABL21.23860461
50DYRK21.23840219
51RPS6KA21.19183311
52PRKAA21.17990284
53PDGFRA1.15949241
54DYRK1B1.13444992
55JAK11.13299661
56PHKG21.12945651
57PHKG11.12945651
58MARK21.09852364
59MINK11.09810686
60EEF2K1.08916399
61MAP3K131.08501755
62ARAF1.07083064
63UHMK11.05980665
64NEK91.05378081
65CAMKK11.04300044
66MAPK151.03363624
67CAMK10.97673590
68IKBKE0.97653641
69RIPK40.96244344
70PRKCZ0.95653823
71MAPK120.95494142
72DMPK0.93187135
73GRK50.91719129
74ERBB20.89694232
75DYRK30.87704524
76PRKCQ0.86638756
77MAPK40.86554971
78BRAF0.82538803
79MTOR0.79787626
80CDK50.79228784
81EPHB10.76582497
82MAP2K60.74745510
83MAPK130.73244344
84PRKACG0.72906918
85FGFR20.72642056
86PRKD20.72015893
87MAP2K30.71380769
88MAP3K110.70766333
89IKBKB0.70575000
90STK110.70214559
91CAMK1D0.69748847
92CAMK2G0.69433701
93KDR0.68476107
94SGK2230.67597345
95SGK4940.67597345
96PKN10.66394125
97PRKCH0.64976298
98WNK10.62919357
99CDK120.62468740
100CASK0.60945345
101MAPK80.60429392
102MAP2K10.60184798
103STK160.58847332
104CDK70.58815999
105MAP3K30.58370368
106PDK10.57806584
107PRKCG0.57238207
108WNK30.55043678
109PTK20.54521303
110RPS6KA60.54289209
111MAP3K40.54035903
112SGK20.53950490
113NEK20.53872078
114PLK20.53825985
115MAP3K60.53426867
116PTK2B0.53381318
117RPS6KC10.53019404
118RPS6KL10.53019404
119PRKG20.51963628
120GRK70.49819617
121MAPK100.49579359
122CSNK1G20.48871254
123GSK3B0.48596095
124CHUK0.48393523
125SYK0.48286204
126MAPK70.48224673
127SIK20.47735965
128MET0.47703170
129KSR20.47647963
130CDK11A0.47456769
131NTRK30.47331078
132CSNK1E0.47278989
133CDC42BPA0.46776101
134EGFR0.46563801
135BMX0.46237978
136PAK60.46196397
137MAP3K10.45140674
138SIK30.45017702
139CCNB10.44665315
140SGK30.43666712
141EPHA20.43405439
142ROCK10.42894187
143RET0.42280293
144GSK3A0.40970572
145FGFR30.40783720
146NTRK10.39652790
147DYRK1A0.38143221
148JAK30.37910116
149STK38L0.37602644
150FGR0.37407851
151PDPK10.36282785
152PRKCA0.36204871
153DAPK10.36126645
154GRK10.34651058
155CSK0.34555704
156IGF1R0.33116697
157PRKAA10.32224959
158PRKCD0.32146462
159CAMK2A0.30899198
160MAP3K100.30192969
161ADRBK20.29710002
162PRKACA0.29452728

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.55706180
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.94231118
3Nitrogen metabolism_Homo sapiens_hsa009103.38486981
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.26554270
5Arginine biosynthesis_Homo sapiens_hsa002203.16733562
6Complement and coagulation cascades_Homo sapiens_hsa046102.81728828
7Tryptophan metabolism_Homo sapiens_hsa003802.69913707
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.61420451
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.55548018
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.48197867
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.42983374
12Histidine metabolism_Homo sapiens_hsa003402.38073805
13Fatty acid degradation_Homo sapiens_hsa000712.34910274
14Pentose and glucuronate interconversions_Homo sapiens_hsa000402.25503385
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.18408631
16Butanoate metabolism_Homo sapiens_hsa006502.08922536
17Peroxisome_Homo sapiens_hsa041462.01388552
18Chemical carcinogenesis_Homo sapiens_hsa052041.95704049
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.91953130
20Steroid hormone biosynthesis_Homo sapiens_hsa001401.88319092
21Propanoate metabolism_Homo sapiens_hsa006401.80968238
22PPAR signaling pathway_Homo sapiens_hsa033201.80144396
23Staphylococcus aureus infection_Homo sapiens_hsa051501.77193953
24Nicotine addiction_Homo sapiens_hsa050331.73188325
25Phenylalanine metabolism_Homo sapiens_hsa003601.71683213
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.71264183
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.68419964
28Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.65954820
29beta-Alanine metabolism_Homo sapiens_hsa004101.65506386
30Fatty acid metabolism_Homo sapiens_hsa012121.64071504
31Retinol metabolism_Homo sapiens_hsa008301.61892253
32Caffeine metabolism_Homo sapiens_hsa002321.58583966
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.52176028
34Tyrosine metabolism_Homo sapiens_hsa003501.50705867
35Selenocompound metabolism_Homo sapiens_hsa004501.47694279
36Bile secretion_Homo sapiens_hsa049761.46114958
37Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.44718841
38Pyruvate metabolism_Homo sapiens_hsa006201.41654240
39Sulfur metabolism_Homo sapiens_hsa009201.40357838
40Insulin secretion_Homo sapiens_hsa049111.39433007
41Synaptic vesicle cycle_Homo sapiens_hsa047211.38619371
42Glutamatergic synapse_Homo sapiens_hsa047241.36173296
432-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.31132092
44ABC transporters_Homo sapiens_hsa020101.30591884
45Cysteine and methionine metabolism_Homo sapiens_hsa002701.28900901
46Circadian entrainment_Homo sapiens_hsa047131.26448299
47Starch and sucrose metabolism_Homo sapiens_hsa005001.23783369
48Notch signaling pathway_Homo sapiens_hsa043301.19449294
49Fatty acid elongation_Homo sapiens_hsa000621.19178951
50Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.18286360
51Fat digestion and absorption_Homo sapiens_hsa049751.15659936
52Maturity onset diabetes of the young_Homo sapiens_hsa049501.15558334
53Axon guidance_Homo sapiens_hsa043601.14507836
54Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.13267249
55Biosynthesis of amino acids_Homo sapiens_hsa012301.12165793
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.09508158
57Folate biosynthesis_Homo sapiens_hsa007901.09394057
58GABAergic synapse_Homo sapiens_hsa047271.08709671
59Cocaine addiction_Homo sapiens_hsa050301.08071622
60Morphine addiction_Homo sapiens_hsa050321.07819927
61Steroid biosynthesis_Homo sapiens_hsa001001.04544587
62Carbon metabolism_Homo sapiens_hsa012001.03380710
63Arginine and proline metabolism_Homo sapiens_hsa003301.02590446
64Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.00405390
65Dopaminergic synapse_Homo sapiens_hsa047280.93255011
66Cyanoamino acid metabolism_Homo sapiens_hsa004600.93007998
67Aldosterone synthesis and secretion_Homo sapiens_hsa049250.90218026
68Vitamin digestion and absorption_Homo sapiens_hsa049770.89068977
69Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.88830735
70Vitamin B6 metabolism_Homo sapiens_hsa007500.87665434
71VEGF signaling pathway_Homo sapiens_hsa043700.82432520
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.81916038
73Salivary secretion_Homo sapiens_hsa049700.80241015
74Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.80085809
75Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.79120167
76Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.78506107
77Amphetamine addiction_Homo sapiens_hsa050310.78450760
78Cholinergic synapse_Homo sapiens_hsa047250.78041195
79Sulfur relay system_Homo sapiens_hsa041220.72409681
80Gastric acid secretion_Homo sapiens_hsa049710.71527416
81Phototransduction_Homo sapiens_hsa047440.69991451
82Glycerolipid metabolism_Homo sapiens_hsa005610.69904050
83Basal cell carcinoma_Homo sapiens_hsa052170.65801792
84Long-term depression_Homo sapiens_hsa047300.65274788
85Hedgehog signaling pathway_Homo sapiens_hsa043400.64097541
86Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63905092
87Long-term potentiation_Homo sapiens_hsa047200.63593210
88Lysine degradation_Homo sapiens_hsa003100.63550324
89Serotonergic synapse_Homo sapiens_hsa047260.63254643
90Olfactory transduction_Homo sapiens_hsa047400.62787201
91Taste transduction_Homo sapiens_hsa047420.62588484
92Calcium signaling pathway_Homo sapiens_hsa040200.60952356
93Glutathione metabolism_Homo sapiens_hsa004800.60113269
94One carbon pool by folate_Homo sapiens_hsa006700.58189839
95Oxytocin signaling pathway_Homo sapiens_hsa049210.58111268
96Cardiac muscle contraction_Homo sapiens_hsa042600.57400384
97cAMP signaling pathway_Homo sapiens_hsa040240.57208322
98Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.54366756
99Dilated cardiomyopathy_Homo sapiens_hsa054140.52006139
100Vascular smooth muscle contraction_Homo sapiens_hsa042700.50318767
101Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50056104
102Type II diabetes mellitus_Homo sapiens_hsa049300.48437570
103Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48165278
104Phospholipase D signaling pathway_Homo sapiens_hsa040720.47982334
105ECM-receptor interaction_Homo sapiens_hsa045120.47372378
106Metabolic pathways_Homo sapiens_hsa011000.46658807
107Estrogen signaling pathway_Homo sapiens_hsa049150.45663433
108Pentose phosphate pathway_Homo sapiens_hsa000300.42920965
109Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42822370
110Fatty acid biosynthesis_Homo sapiens_hsa000610.41227308
111Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.36265961
112alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.35254021
113Prion diseases_Homo sapiens_hsa050200.34609629
114Linoleic acid metabolism_Homo sapiens_hsa005910.32450673
115Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.25865717
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.22567773
117Galactose metabolism_Homo sapiens_hsa000520.21336708
118Adipocytokine signaling pathway_Homo sapiens_hsa049200.18414673
119Insulin resistance_Homo sapiens_hsa049310.15744097
120Glucagon signaling pathway_Homo sapiens_hsa049220.15414201
121Fructose and mannose metabolism_Homo sapiens_hsa000510.10016383
122African trypanosomiasis_Homo sapiens_hsa051430.03558387
123Intestinal immune network for IgA production_Homo sapiens_hsa046720.02731184
124Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.02191145
125Asthma_Homo sapiens_hsa05310-0.2086352
126Pertussis_Homo sapiens_hsa05133-0.2044509
127Hepatitis C_Homo sapiens_hsa05160-0.1945105
128Oxidative phosphorylation_Homo sapiens_hsa00190-0.1887065
129Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1817837
130Ether lipid metabolism_Homo sapiens_hsa00565-0.1788752
131Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1782433
132Insulin signaling pathway_Homo sapiens_hsa04910-0.1760889
133Regulation of autophagy_Homo sapiens_hsa04140-0.1751199
134Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014-0.1737530
135Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1695264
136NF-kappa B signaling pathway_Homo sapiens_hsa04064-0.1687717
137RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.1530352
138Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1371169
139Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1286022
140Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1226318
141Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.0932976
142AMPK signaling pathway_Homo sapiens_hsa04152-0.0848239
143Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.0265496

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