HS6ST1

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: The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)6.72974821
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.72974821
3L-phenylalanine metabolic process (GO:0006558)6.56856074
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.56856074
5aromatic amino acid family catabolic process (GO:0009074)6.05194773
6kynurenine metabolic process (GO:0070189)5.55411109
7triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.54458684
8glyoxylate metabolic process (GO:0046487)5.50969791
9tryptophan catabolic process (GO:0006569)5.44860866
10indole-containing compound catabolic process (GO:0042436)5.44860866
11indolalkylamine catabolic process (GO:0046218)5.44860866
12alpha-linolenic acid metabolic process (GO:0036109)5.43559365
13urea cycle (GO:0000050)5.24652303
14urea metabolic process (GO:0019627)5.24652303
15cysteine metabolic process (GO:0006534)5.19619283
16sulfur amino acid catabolic process (GO:0000098)5.17066066
17tryptophan metabolic process (GO:0006568)5.10461208
18negative regulation of fibrinolysis (GO:0051918)5.08155922
19bile acid biosynthetic process (GO:0006699)5.07390994
20lysine catabolic process (GO:0006554)5.00532775
21lysine metabolic process (GO:0006553)5.00532775
22peptidyl-glutamic acid carboxylation (GO:0017187)4.96378751
23protein carboxylation (GO:0018214)4.96378751
24serine family amino acid catabolic process (GO:0009071)4.93250873
25high-density lipoprotein particle remodeling (GO:0034375)4.85052558
26complement activation, alternative pathway (GO:0006957)4.77816276
27regulation of protein activation cascade (GO:2000257)4.75133951
28nitrogen cycle metabolic process (GO:0071941)4.74411530
29regulation of fibrinolysis (GO:0051917)4.66655648
30homocysteine metabolic process (GO:0050667)4.61321307
31regulation of cholesterol homeostasis (GO:2000188)4.52272218
32negative regulation of cholesterol transport (GO:0032375)4.44678939
33negative regulation of sterol transport (GO:0032372)4.44678939
34dicarboxylic acid biosynthetic process (GO:0043650)4.43924692
35regulation of complement activation (GO:0030449)4.43333363
36bile acid metabolic process (GO:0008206)4.42285159
37amino-acid betaine metabolic process (GO:0006577)4.42143579
38fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.41934604
39reverse cholesterol transport (GO:0043691)4.38198905
40aromatic amino acid family metabolic process (GO:0009072)4.32095030
41drug catabolic process (GO:0042737)4.31955481
42alpha-amino acid catabolic process (GO:1901606)4.30753274
43glutamate metabolic process (GO:0006536)4.29378532
44cellular modified amino acid catabolic process (GO:0042219)4.22834991
45synaptic vesicle docking involved in exocytosis (GO:0016081)4.22272615
46triglyceride homeostasis (GO:0070328)4.19868859
47acylglycerol homeostasis (GO:0055090)4.19868859
48regulation of triglyceride catabolic process (GO:0010896)4.11797750
49regulation of cholesterol esterification (GO:0010872)4.06983810
50planar cell polarity pathway involved in neural tube closure (GO:0090179)4.05714310
51protein-lipid complex remodeling (GO:0034368)4.05109851
52macromolecular complex remodeling (GO:0034367)4.05109851
53plasma lipoprotein particle remodeling (GO:0034369)4.05109851
54tyrosine metabolic process (GO:0006570)4.03352413
55cellular amino acid catabolic process (GO:0009063)4.01483355
56glycine metabolic process (GO:0006544)3.99170147
57cellular ketone body metabolic process (GO:0046950)3.98908333
58phospholipid efflux (GO:0033700)3.97396030
59cytoskeletal anchoring at plasma membrane (GO:0007016)3.97265993
60layer formation in cerebral cortex (GO:0021819)3.95281632
61serine family amino acid metabolic process (GO:0009069)3.89653899
62exogenous drug catabolic process (GO:0042738)3.86712009
63coenzyme catabolic process (GO:0009109)3.86131835
64plasma lipoprotein particle clearance (GO:0034381)3.84813148
65bile acid and bile salt transport (GO:0015721)3.79357454
66arginine metabolic process (GO:0006525)3.77011061
67cholesterol efflux (GO:0033344)3.74785221
68indolalkylamine metabolic process (GO:0006586)3.74246023
69ethanol oxidation (GO:0006069)3.73463589
70benzene-containing compound metabolic process (GO:0042537)3.70230624
71plasma lipoprotein particle assembly (GO:0034377)3.69941203
72regulation of short-term neuronal synaptic plasticity (GO:0048172)3.69846279
73cell migration in hindbrain (GO:0021535)3.69031327
74glutamate secretion (GO:0014047)3.67080760
75positive regulation of fatty acid beta-oxidation (GO:0032000)3.66406692
76imidazole-containing compound metabolic process (GO:0052803)3.64133373
77regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.63727351
78amine catabolic process (GO:0009310)3.63510859
79cellular biogenic amine catabolic process (GO:0042402)3.63510859
80phospholipid homeostasis (GO:0055091)3.62581804
81urate metabolic process (GO:0046415)3.59649208
82acetyl-CoA metabolic process (GO:0006084)3.58176021
83drug transmembrane transport (GO:0006855)3.57921230
84regulation of bile acid biosynthetic process (GO:0070857)3.53043544
85aspartate family amino acid catabolic process (GO:0009068)3.51945511
86cellular glucuronidation (GO:0052695)3.51279556
87positive regulation of lipid catabolic process (GO:0050996)3.51185591
88cholesterol homeostasis (GO:0042632)3.49040595
892-oxoglutarate metabolic process (GO:0006103)3.48271560
90sterol homeostasis (GO:0055092)3.47063080
91fibrinolysis (GO:0042730)3.45896108
92sodium ion export (GO:0071436)3.44687744
93serine family amino acid biosynthetic process (GO:0009070)3.43942276
94synaptic vesicle maturation (GO:0016188)3.43479510
95protein-lipid complex assembly (GO:0065005)3.41093126
96very-low-density lipoprotein particle assembly (GO:0034379)3.40815583
97positive regulation of lipoprotein lipase activity (GO:0051006)3.38283437
98positive regulation of triglyceride lipase activity (GO:0061365)3.38283437
99organic acid catabolic process (GO:0016054)3.38215016
100carboxylic acid catabolic process (GO:0046395)3.38215016
101regulation of fatty acid beta-oxidation (GO:0031998)3.38147801
102cerebellar granule cell differentiation (GO:0021707)3.36920304
103ketone body metabolic process (GO:1902224)3.36108717
104complement activation, classical pathway (GO:0006958)3.35878523
105short-chain fatty acid metabolic process (GO:0046459)3.35866870
106positive regulation of synapse maturation (GO:0090129)3.35330274
107G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.33270385
108complement activation (GO:0006956)3.31196767
109heme transport (GO:0015886)3.29781645
110lipoprotein metabolic process (GO:0042157)3.29319582
111negative regulation of lipase activity (GO:0060192)3.29073677
112regulation of synaptic vesicle exocytosis (GO:2000300)3.28835133
113intestinal cholesterol absorption (GO:0030299)3.27780637
114carnitine metabolic process (GO:0009437)3.22065905
115regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.16300861
116regulation of neuronal synaptic plasticity (GO:0048168)3.13091194
117cellular response to follicle-stimulating hormone stimulus (GO:0071372)3.09563526
118cell-cell junction maintenance (GO:0045217)3.09482769
119positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.04331386
120apical protein localization (GO:0045176)3.00260506
121vocalization behavior (GO:0071625)2.95131031
122neuromuscular process controlling balance (GO:0050885)2.94394613
123semaphorin-plexin signaling pathway (GO:0071526)2.93921247
124cellular potassium ion homeostasis (GO:0030007)2.92663651
125cell communication by electrical coupling (GO:0010644)2.90195599
126chondrocyte proliferation (GO:0035988)2.88657524
127synaptic vesicle exocytosis (GO:0016079)2.87687788
128amino acid import (GO:0043090)2.87686161
129mating behavior (GO:0007617)2.87533288
130epithelial cell-cell adhesion (GO:0090136)2.86201723
131convergent extension (GO:0060026)2.85963799
132neuronal ion channel clustering (GO:0045161)2.83779823
133postsynaptic membrane organization (GO:0001941)2.79866204
134locomotory exploration behavior (GO:0035641)2.78886699
135Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.78647466
136protein retention in ER lumen (GO:0006621)2.70496365
137adherens junction assembly (GO:0034333)2.67729514
138dopamine receptor signaling pathway (GO:0007212)2.66913146
139neuron recognition (GO:0008038)2.66496105
140axonal fasciculation (GO:0007413)2.65656371
141negative regulation of catenin import into nucleus (GO:0035414)2.63167349
142regulation of establishment of planar polarity (GO:0090175)2.58614832
143adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.58475493
144regulation of glutamate receptor signaling pathway (GO:1900449)2.58436362
145neural tube development (GO:0021915)2.56894305
146cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.55953337
147neurotransmitter secretion (GO:0007269)2.55258676
148dendritic spine morphogenesis (GO:0060997)2.55232256
149regulation of synaptic vesicle transport (GO:1902803)2.53817651
150ionotropic glutamate receptor signaling pathway (GO:0035235)2.52479543
151regulation of long-term neuronal synaptic plasticity (GO:0048169)2.51405804
152basement membrane organization (GO:0071711)2.50899048
153positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.50763748
154regulation of cholesterol biosynthetic process (GO:0045540)2.50543334
155dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.49918900
156cerebellar Purkinje cell layer development (GO:0021680)2.49211566
157exploration behavior (GO:0035640)2.48766827
158positive regulation of dendritic spine morphogenesis (GO:0061003)2.48652802
159establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.48454965
160maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.48224346
161camera-type eye morphogenesis (GO:0048593)2.46863789
162L-amino acid import (GO:0043092)2.46828324
163synaptic vesicle endocytosis (GO:0048488)2.46278456
164axon extension (GO:0048675)2.45431905
165positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.44975771
166neurotransmitter-gated ion channel clustering (GO:0072578)2.44359527
167asymmetric protein localization (GO:0008105)2.43765881
168embryonic eye morphogenesis (GO:0048048)2.42757793
169non-canonical Wnt signaling pathway (GO:0035567)2.42612700
170establishment of apical/basal cell polarity (GO:0035089)2.41728529
171embryonic retina morphogenesis in camera-type eye (GO:0060059)2.41518930
172regulation of synapse maturation (GO:0090128)2.39876305
173myelination in peripheral nervous system (GO:0022011)2.38854983
174peripheral nervous system axon ensheathment (GO:0032292)2.38854983
175branching involved in salivary gland morphogenesis (GO:0060445)2.38712582
176eye morphogenesis (GO:0048592)2.36081379
177positive regulation of dendrite development (GO:1900006)2.34518233
178positive regulation of dendritic spine development (GO:0060999)2.34321581
179paraxial mesoderm development (GO:0048339)2.34167614
180G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.33115949
181response to follicle-stimulating hormone (GO:0032354)2.32936638
182cell junction maintenance (GO:0034331)2.32676347
183embryonic camera-type eye morphogenesis (GO:0048596)2.32491002
184central nervous system myelination (GO:0022010)2.30627052
185axon ensheathment in central nervous system (GO:0032291)2.30627052
186regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.30469449
187atrioventricular valve morphogenesis (GO:0003181)2.29742546
188developmental cell growth (GO:0048588)2.29536598
189dendritic spine organization (GO:0097061)2.29151006
190cell-substrate adherens junction assembly (GO:0007045)2.28993067
191focal adhesion assembly (GO:0048041)2.28993067
192regulation of axon extension involved in axon guidance (GO:0048841)2.28956828
193presynaptic membrane organization (GO:0097090)2.28665503
194regulation of synaptic plasticity (GO:0048167)2.28311860
195establishment of mitochondrion localization (GO:0051654)2.27506097
196cellular response to prostaglandin stimulus (GO:0071379)2.27157166
197mitochondrion transport along microtubule (GO:0047497)2.26460496
198establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.26460496
199establishment or maintenance of apical/basal cell polarity (GO:0035088)2.26283478

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.42640049
2* RXR_22158963_ChIP-Seq_LIVER_Mouse6.94648401
3* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.06434317
4* LXR_22158963_ChIP-Seq_LIVER_Mouse5.45132296
5EGR1_23403033_ChIP-Seq_LIVER_Mouse4.60419165
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.28293174
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.92768589
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.88877854
9CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.19714838
10WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.35593759
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.31615350
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.29908701
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.29908701
14EZH2_22144423_ChIP-Seq_EOC_Human2.22791229
15TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.18548750
16STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.13707461
17ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.06929033
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.05596016
19CLOCK_20551151_ChIP-Seq_293T_Human1.99272075
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.95472181
21JARID2_20064375_ChIP-Seq_MESCs_Mouse1.95044744
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.93537295
23TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.89650603
24JARID2_20075857_ChIP-Seq_MESCs_Mouse1.89618115
25EZH2_27304074_Chip-Seq_ESCs_Mouse1.88777957
26RARB_27405468_Chip-Seq_BRAIN_Mouse1.86030678
27ZNF263_19887448_ChIP-Seq_K562_Human1.83717976
28DROSHA_22980978_ChIP-Seq_HELA_Human1.83185495
29SUZ12_27294783_Chip-Seq_ESCs_Mouse1.82181368
30SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.77320989
31FOXA2_19822575_ChIP-Seq_HepG2_Human1.76597238
32SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.75602762
33EZH2_27294783_Chip-Seq_ESCs_Mouse1.74268185
34TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.73084205
35MTF2_20144788_ChIP-Seq_MESCs_Mouse1.71291473
36EED_16625203_ChIP-ChIP_MESCs_Mouse1.70593814
37SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.70539348
38TP63_17297297_ChIP-ChIP_HaCaT_Human1.70151152
39NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.69753245
40ESR2_21235772_ChIP-Seq_MCF-7_Human1.69098724
41TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.68874801
42SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.66531643
43SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.62915231
44* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.62189968
45SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61927394
46RARG_19884340_ChIP-ChIP_MEFs_Mouse1.58541388
47UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.57427007
48RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.55395124
49ESR1_15608294_ChIP-ChIP_MCF-7_Human1.54158259
50CTCF_27219007_Chip-Seq_Bcells_Human1.53520832
51* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.53355044
52LXR_22292898_ChIP-Seq_THP-1_Human1.52501018
53STAT6_21828071_ChIP-Seq_BEAS2B_Human1.51410948
54PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.51195400
55ESR1_21235772_ChIP-Seq_MCF-7_Human1.50061777
56* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.48330491
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.47858649
58* RING1B_27294783_Chip-Seq_NPCs_Mouse1.46095656
59* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.41930216
60CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.41680976
61TP53_20018659_ChIP-ChIP_R1E_Mouse1.41507724
62* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.40503811
63* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.39226706
64HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.38407192
65SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.37710400
66* HNF4A_19822575_ChIP-Seq_HepG2_Human1.35652346
67* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.32454206
68* RACK7_27058665_Chip-Seq_MCF-7_Human1.29756168
69PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.24602154
70TET1_21490601_ChIP-Seq_MESCs_Mouse1.24471164
71SMC4_20622854_ChIP-Seq_HELA_Human1.23345752
72* SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.23023003
73* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.21293416
74REST_21632747_ChIP-Seq_MESCs_Mouse1.19191346
75RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.14314133
76SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.12847736
77* SA1_27219007_Chip-Seq_ERYTHROID_Human1.12457777
78* REST_18959480_ChIP-ChIP_MESCs_Mouse1.11786859
79CDX2_20551321_ChIP-Seq_CACO-2_Human1.10624301
80GATA1_19941826_ChIP-Seq_K562_Human1.10379827
81* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10127699
82* KDM2B_26808549_Chip-Seq_K562_Human1.08854649
83STAT3_1855785_ChIP-Seq_MESCs_Mouse1.08758472
84KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.08426729
85* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05724104
86ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.04958662
87P300_27058665_Chip-Seq_ZR-75-30cells_Human1.03308499
88SOX3_22085726_ChIP-Seq_NPCs_Mouse1.02840424
89EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.02327679
90GATA6_25053715_ChIP-Seq_YYC3_Human1.02255673
91ZFP281_18757296_ChIP-ChIP_E14_Mouse1.02091436
92TET1_21451524_ChIP-Seq_MESCs_Mouse1.01813099
93* ISL1_27105846_Chip-Seq_CPCs_Mouse1.01531737
94* CREB1_26743006_Chip-Seq_LNCaP_Human1.00534633
95* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.00431410
96* KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.99980263
97SRY_22984422_ChIP-ChIP_TESTIS_Rat0.99966883
98RBPJ_22232070_ChIP-Seq_NCS_Mouse0.99918373
99TRIM28_21343339_ChIP-Seq_HEK293_Human0.99865307
100POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.99126090
101FOXO3_23340844_ChIP-Seq_DLD1_Human0.98548936
102PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.98205151
103GATA4_25053715_ChIP-Seq_YYC3_Human0.97549864
104* ERG_21242973_ChIP-ChIP_JURKAT_Human0.96184772
105CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.95454987
106ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.95144489
107P68_20966046_ChIP-Seq_HELA_Human0.94855532
108CTCF_27219007_Chip-Seq_ERYTHROID_Human0.94771379
109KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.94303985
110STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.94095640
111GATA1_22025678_ChIP-Seq_K562_Human0.93051901
112* SOX9_24532713_ChIP-Seq_HFSC_Mouse0.93029192
113ATF3_27146783_Chip-Seq_COLON_Human0.90980591
114TCF7_22412390_ChIP-Seq_EML_Mouse0.90763322
115RXRA_24833708_ChIP-Seq_LIVER_Mouse0.90089359
116* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.90070780
117NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.89370231
118* KDM2B_26808549_Chip-Seq_DND41_Human0.88612407
119GATA1_19941827_ChIP-Seq_MEL_Mouse0.88595765
120* ELK3_25401928_ChIP-Seq_HUVEC_Human0.88509906
121ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.88463405
122NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.87898199
123* KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.86608315
124SALL4_18804426_ChIP-ChIP_XEN_Mouse0.85986668
125TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.85312084
126* KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.85262140
127* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.84427409
128ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.82931573
129* PPAR_26484153_Chip-Seq_NCI-H1993_Human0.82133412
130GATA2_19941826_ChIP-Seq_K562_Human0.81715087
131TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.80534285
132CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.79307160
133* POU5F1_16518401_ChIP-PET_MESCs_Mouse0.79023497
134NFIB_24661679_ChIP-Seq_LUNG_Mouse0.78088112
135MYC_22102868_ChIP-Seq_BL_Human0.77684222
136ESR1_20079471_ChIP-ChIP_T-47D_Human0.76975931
137* NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.76643493
138ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.75875121
139TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.75784188
140* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.75516219
141RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.75010445
142DNAJC2_21179169_ChIP-ChIP_NT2_Human0.74732722
143KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.74240895
144KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.74240895
145KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.74240895
146STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.73715255
147* TCF3_18692474_ChIP-Seq_MEFs_Mouse0.72916265
148KDM2B_26808549_Chip-Seq_JURKAT_Human0.72152290
149AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.71929362
150* SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.71710106
151RARA_24833708_ChIP-Seq_LIVER_Mouse0.70920770
152TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.70538618
153* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.70242876
154BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.69343974
155* RUNX1_27514584_Chip-Seq_MCF-7_Human0.69114106
156SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.68689887
157SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.68625184
158* TBX20_22080862_ChIP-Seq_HEART_Mouse0.68455972
159* TBX20_22328084_ChIP-Seq_HEART_Mouse0.68455972
160HIF1A_21447827_ChIP-Seq_MCF-7_Human0.68134410

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.70820160
2MP0005360_urolithiasis7.25994497
3MP0005085_abnormal_gallbladder_physiolo6.02194278
4MP0005365_abnormal_bile_salt5.55249830
5MP0004859_abnormal_synaptic_plasticity4.40548323
6MP0008875_abnormal_xenobiotic_pharmacok4.30465120
7MP0003252_abnormal_bile_duct3.98174583
8MP0003806_abnormal_nucleotide_metabolis3.57393166
9MP0010329_abnormal_lipoprotein_level3.30788952
10MP0005083_abnormal_biliary_tract3.19625289
11MP0009840_abnormal_foam_cell3.19411880
12MP0000566_synostosis2.96847328
13MP0004270_analgesia2.82102355
14MP0005332_abnormal_amino_acid2.69741215
15MP0003195_calcinosis2.66215493
16MP0003705_abnormal_hypodermis_morpholog2.64496208
17MP0004019_abnormal_vitamin_homeostasis2.43154940
18MP0003122_maternal_imprinting2.40025465
19MP0001666_abnormal_nutrient_absorption2.37923313
20MP0005257_abnormal_intraocular_pressure2.34881577
21MP0003191_abnormal_cellular_cholesterol2.27629594
22MP0005423_abnormal_somatic_nervous2.20864397
23MP0000609_abnormal_liver_physiology2.09746378
24MP0003635_abnormal_synaptic_transmissio2.09407667
25MP0003123_paternal_imprinting2.04403114
26MP0002138_abnormal_hepatobiliary_system2.01406373
27MP0002822_catalepsy2.00103481
28MP0002118_abnormal_lipid_homeostasis1.94862474
29MP0008438_abnormal_cutaneous_collagen1.91963057
30MP0005409_darkened_coat_color1.91400127
31MP0009780_abnormal_chondrocyte_physiolo1.91125133
32MP0002089_abnormal_postnatal_growth/wei1.88564431
33MP0000778_abnormal_nervous_system1.82605674
34MP0002249_abnormal_larynx_morphology1.77582984
35MP0003868_abnormal_feces_composition1.73873531
36MP0005319_abnormal_enzyme/_coenzyme1.72939876
37MP0000462_abnormal_digestive_system1.64737253
38MP0002063_abnormal_learning/memory/cond1.63593922
39MP0010030_abnormal_orbit_morphology1.61534122
40MP0004272_abnormal_basement_membrane1.56218948
41MP0003656_abnormal_erythrocyte_physiolo1.55751556
42MP0002734_abnormal_mechanical_nocicepti1.54905095
43MP0000537_abnormal_urethra_morphology1.54361928
44MP0009643_abnormal_urine_homeostasis1.45608032
45MP0003942_abnormal_urinary_system1.43592505
46MP0002254_reproductive_system_inflammat1.43529038
47MP0003634_abnormal_glial_cell1.42569956
48MP0005670_abnormal_white_adipose1.38121298
49MP0005584_abnormal_enzyme/coenzyme_acti1.36359057
50MP0002064_seizures1.35285750
51MP0003880_abnormal_central_pattern1.33394295
52MP0001299_abnormal_eye_distance/1.30735597
53MP0000534_abnormal_ureter_morphology1.28649121
54MP0000955_abnormal_spinal_cord1.26648771
55MP0009053_abnormal_anal_canal1.26570718
56MP0000598_abnormal_liver_morphology1.20471291
57MP0002572_abnormal_emotion/affect_behav1.18505477
58MP0005623_abnormal_meninges_morphology1.18179754
59MP0002697_abnormal_eye_size1.17752900
60MP0002909_abnormal_adrenal_gland1.17234412
61MP0010234_abnormal_vibrissa_follicle1.15418217
62MP0003861_abnormal_nervous_system1.11777012
63MP0001958_emphysema1.10494800
64MP0004264_abnormal_extraembryonic_tissu1.10211657
65MP0008569_lethality_at_weaning1.09914830
66MP0002184_abnormal_innervation1.09850670
67MP0009384_cardiac_valve_regurgitation1.09465909
68MP0000428_abnormal_craniofacial_morphol1.07680666
69MP0003385_abnormal_body_wall1.07545167
70MP0003300_gastrointestinal_ulcer1.06652249
71MP0005451_abnormal_body_composition1.05075963
72MP0002152_abnormal_brain_morphology1.04692928
73MP0004811_abnormal_neuron_physiology1.04489102
74MP0001177_atelectasis1.03374703
75MP0002735_abnormal_chemical_nociception1.02699309
76MP0005508_abnormal_skeleton_morphology1.02181525
77MP0003938_abnormal_ear_development1.01576984
78MP0009745_abnormal_behavioral_response1.01358906
79MP0001764_abnormal_homeostasis1.00372889
80MP0000762_abnormal_tongue_morphology0.99761990
81MP0000751_myopathy0.98944825
82MP0001756_abnormal_urination0.98939103
83MP0005058_abnormal_lysosome_morphology0.97775012
84MP0003879_abnormal_hair_cell0.96340729
85MP0002882_abnormal_neuron_morphology0.96067753
86MP0001346_abnormal_lacrimal_gland0.95622829
87MP0004130_abnormal_muscle_cell0.93015036
88MP0002116_abnormal_craniofacial_bone0.92674179
89MP0000604_amyloidosis0.92510250
90MP0004233_abnormal_muscle_weight0.90495057
91MP0005636_abnormal_mineral_homeostasis0.88889849
92MP0001486_abnormal_startle_reflex0.87924820
93MP0008961_abnormal_basal_metabolism0.87342894
94MP0005647_abnormal_sex_gland0.86261417
95MP0005377_hearing/vestibular/ear_phenot0.85937413
96MP0003878_abnormal_ear_physiology0.85937413
97MP0002557_abnormal_social/conspecific_i0.85856453
98MP0003279_aneurysm0.85363536
99MP0005248_abnormal_Harderian_gland0.83400694
100MP0003119_abnormal_digestive_system0.83160936
101MP0000049_abnormal_middle_ear0.82320238
102MP0002081_perinatal_lethality0.82206315
103MP0003121_genomic_imprinting0.82145520
104* MP0002092_abnormal_eye_morphology0.80649314
105MP0003632_abnormal_nervous_system0.80504766
106MP0002272_abnormal_nervous_system0.79457605
107MP0002932_abnormal_joint_morphology0.79239002
108MP0003690_abnormal_glial_cell0.78272467
109MP0002168_other_aberrant_phenotype0.78001388
110MP0003315_abnormal_perineum_morphology0.77317008
111MP0010368_abnormal_lymphatic_system0.77196097
112MP0001340_abnormal_eyelid_morphology0.76994040
113MP0002078_abnormal_glucose_homeostasis0.76784938
114MP0009250_abnormal_appendicular_skeleto0.76199659
115MP0001968_abnormal_touch/_nociception0.75967974
116MP0005220_abnormal_exocrine_pancreas0.75899971
117MP0001849_ear_inflammation0.75752867
118MP0003172_abnormal_lysosome_physiology0.75617594
119MP0005666_abnormal_adipose_tissue0.75570250
120MP0000678_abnormal_parathyroid_gland0.75562729
121MP0009642_abnormal_blood_homeostasis0.74945592
122MP0009672_abnormal_birth_weight0.74933088
123MP0003011_delayed_dark_adaptation0.74426189
124MP0002733_abnormal_thermal_nociception0.74252843
125MP0000767_abnormal_smooth_muscle0.73104657
126MP0000920_abnormal_myelination0.73004433
127MP0005334_abnormal_fat_pad0.72996642
128MP0001970_abnormal_pain_threshold0.72568661
129MP0002928_abnormal_bile_duct0.71703672
130MP0002111_abnormal_tail_morphology0.71654848
131MP0002066_abnormal_motor_capabilities/c0.71649876
132MP0001502_abnormal_circadian_rhythm0.71103260
133MP0002136_abnormal_kidney_physiology0.70311446
134MP0009763_increased_sensitivity_to0.69319721
135MP0000639_abnormal_adrenal_gland0.68285269
136MP0004043_abnormal_pH_regulation0.68130006
137MP0003329_amyloid_beta_deposits0.66594705
138MP0003566_abnormal_cell_adhesion0.65460299
139MP0002971_abnormal_brown_adipose0.65060718
140MP0009764_decreased_sensitivity_to0.64237412
141MP0003186_abnormal_redox_activity0.61679308
142MP0004858_abnormal_nervous_system0.60523391
143MP0002796_impaired_skin_barrier0.59156102
144MP0005076_abnormal_cell_differentiation0.57864011
145MP0003453_abnormal_keratinocyte_physiol0.57441552
146MP0005395_other_phenotype0.56468565
147MP0009765_abnormal_xenobiotic_induced0.55991398
148MP0000579_abnormal_nail_morphology0.55871857
149MP0003075_altered_response_to0.55674395
150MP0002269_muscular_atrophy0.55296640
151MP0005448_abnormal_energy_balance0.53971784
152MP0004185_abnormal_adipocyte_glucose0.50964246
153MP0002060_abnormal_skin_morphology0.50872772
154MP0005376_homeostasis/metabolism_phenot0.49899163
155MP0008469_abnormal_protein_level0.49421811
156MP0001881_abnormal_mammary_gland0.48164795
157MP0003115_abnormal_respiratory_system0.47724546
158MP0005375_adipose_tissue_phenotype0.47630009
159MP0002896_abnormal_bone_mineralization0.46233049
160MP0003638_abnormal_response/metabolism_0.46052091
161MP0002135_abnormal_kidney_morphology0.44732630
162MP0005023_abnormal_wound_healing0.44679402
163MP0001915_intracranial_hemorrhage0.44159210
164MP0005166_decreased_susceptibility_to0.43982946
165MP0010352_gastrointestinal_tract_polyps0.43494606
166MP0005266_abnormal_metabolism0.43118702
167MP0003953_abnormal_hormone_level0.42932637
168MP0000538_abnormal_urinary_bladder0.42626749
169MP0008874_decreased_physiological_sensi0.42444526
170MP0008872_abnormal_physiological_respon0.41958295
171MP0009115_abnormal_fat_cell0.41412572
172MP0003283_abnormal_digestive_organ0.41204727
173MP0001765_abnormal_ion_homeostasis0.40368478
174MP0002970_abnormal_white_adipose0.39776127
175MP0005535_abnormal_body_temperature0.39026570
176MP0005187_abnormal_penis_morphology0.38093153
177MP0005408_hypopigmentation0.37901546
178MP0009703_decreased_birth_body0.35871920
179MP0001661_extended_life_span0.35805394
180MP0003045_fibrosis0.35260108
181MP0004885_abnormal_endolymph0.35042708

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)6.75065442
2Intrahepatic cholestasis (HP:0001406)6.37618869
3Abnormality of aromatic amino acid family metabolism (HP:0004338)6.25756390
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.15645007
5Xanthomatosis (HP:0000991)5.70215959
6Hypobetalipoproteinemia (HP:0003563)5.11465220
7Complement deficiency (HP:0004431)4.87065683
8Prolonged partial thromboplastin time (HP:0003645)4.79144282
9Hyperlipoproteinemia (HP:0010980)4.43486512
10Abnormality of glutamine family amino acid metabolism (HP:0010902)4.31057424
11Hyperammonemia (HP:0001987)4.17979721
12Epidermoid cyst (HP:0200040)4.16169465
13Hypolipoproteinemia (HP:0010981)4.05069713
14Ketosis (HP:0001946)4.01794878
15Abnormality of sulfur amino acid metabolism (HP:0004339)4.00228817
16Hyperglycinemia (HP:0002154)3.85839347
17Hypoalphalipoproteinemia (HP:0003233)3.80800296
18Hyperglycinuria (HP:0003108)3.80497341
19Abnormality of the common coagulation pathway (HP:0010990)3.76008397
20Joint hemorrhage (HP:0005261)3.65738247
21Abnormality of complement system (HP:0005339)3.57582601
22Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.57511006
23Abnormality of serine family amino acid metabolism (HP:0010894)3.56742614
24Abnormality of glycine metabolism (HP:0010895)3.56742614
25Abnormality of aspartate family amino acid metabolism (HP:0010899)3.54215043
26Hypochromic microcytic anemia (HP:0004840)3.44559240
27Gout (HP:0001997)3.42786670
28Protrusio acetabuli (HP:0003179)3.42165091
29Abnormality of methionine metabolism (HP:0010901)3.31876527
30Fat malabsorption (HP:0002630)3.29910699
31Hypoglycemic coma (HP:0001325)3.28934722
32Abnormality of pyrimidine metabolism (HP:0004353)3.27756410
33Hepatocellular carcinoma (HP:0001402)3.12981154
34Ketoacidosis (HP:0001993)3.12535755
35Hyperacusis (HP:0010780)3.11726669
36Abnormality of the intrinsic pathway (HP:0010989)3.11552033
37Hypercholesterolemia (HP:0003124)3.11433961
38Abnormality of nucleobase metabolism (HP:0010932)3.05609136
39Myokymia (HP:0002411)3.01062579
40Hyperbilirubinemia (HP:0002904)2.97245240
41Abnormality of purine metabolism (HP:0004352)2.94535499
42Myocardial infarction (HP:0001658)2.89007676
43Shallow orbits (HP:0000586)2.83855444
44Delayed CNS myelination (HP:0002188)2.83025320
45Obstructive sleep apnea (HP:0002870)2.82395087
46Premature rupture of membranes (HP:0001788)2.80688395
47Bronchomalacia (HP:0002780)2.78496892
48Spastic diplegia (HP:0001264)2.76796996
49Aplasia involving bones of the extremities (HP:0009825)2.74390839
50Aplasia involving bones of the upper limbs (HP:0009823)2.74390839
51Aplasia of the phalanges of the hand (HP:0009802)2.74390839
52Skin nodule (HP:0200036)2.71397235
53Abnormality of fatty-acid metabolism (HP:0004359)2.67294050
54Neurofibrillary tangles (HP:0002185)2.65224982
55Cholelithiasis (HP:0001081)2.63983331
56Ulnar bowing (HP:0003031)2.63244747
57Conjugated hyperbilirubinemia (HP:0002908)2.60195577
58Abnormal gallbladder morphology (HP:0012437)2.56506646
59Vascular calcification (HP:0004934)2.56350893
60Systemic lupus erythematosus (HP:0002725)2.55133146
61Neonatal short-limb short stature (HP:0008921)2.52917201
62Poikilocytosis (HP:0004447)2.52519357
63Insomnia (HP:0100785)2.50388094
64Reticulocytosis (HP:0001923)2.50317828
65Malnutrition (HP:0004395)2.49707635
66Neonatal onset (HP:0003623)2.47672054
67Cerebral aneurysm (HP:0004944)2.47225521
68Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.44248503
69Abnormality of the Achilles tendon (HP:0005109)2.43036310
70Acanthocytosis (HP:0001927)2.42641087
71Cerebral inclusion bodies (HP:0100314)2.40851124
72Esophageal varix (HP:0002040)2.40417102
73Abnormality of serum amino acid levels (HP:0003112)2.37753582
74Cardiovascular calcification (HP:0011915)2.35117751
75Coronal craniosynostosis (HP:0004440)2.33105404
76Metabolic acidosis (HP:0001942)2.29689597
77Irritability (HP:0000737)2.29503763
78Arnold-Chiari malformation (HP:0002308)2.27943262
79Steatorrhea (HP:0002570)2.27347076
80Late onset (HP:0003584)2.26767622
81Glomerulonephritis (HP:0000099)2.26262783
82Turricephaly (HP:0000262)2.25789463
83Spontaneous abortion (HP:0005268)2.22925485
84Abnormality of the distal phalanx of the thumb (HP:0009617)2.22795359
85Rickets (HP:0002748)2.21133285
86Mitral stenosis (HP:0001718)2.21130818
87Bladder diverticulum (HP:0000015)2.20423442
88Back pain (HP:0003418)2.20158796
89Abnormal gallbladder physiology (HP:0012438)2.19975698
90Cholecystitis (HP:0001082)2.19975698
91Hydroxyprolinuria (HP:0003080)2.18026661
92Abnormality of proline metabolism (HP:0010907)2.18026661
93Increased purine levels (HP:0004368)2.17591458
94Hyperuricemia (HP:0002149)2.17591458
95Choanal stenosis (HP:0000452)2.16933760
96Renal duplication (HP:0000075)2.16221300
97Hypoglycemic seizures (HP:0002173)2.15821297
98Cupped ribs (HP:0000887)2.14260232
99Sensorimotor neuropathy (HP:0007141)2.12562469
100Hemorrhage of the eye (HP:0011885)2.10666092
101Vertebral arch anomaly (HP:0008438)2.10405878
102Overriding aorta (HP:0002623)2.10363519
103Abnormal ossification of hand bones (HP:0005921)2.09650063
104Alkalosis (HP:0001948)2.08982641
105Vascular tortuosity (HP:0004948)2.07693434
106Pointed chin (HP:0000307)2.06773666
107Asymmetry of the thorax (HP:0001555)2.04310598
108Abnormality of the gallbladder (HP:0005264)2.03118250
109Abnormality of carpal bone ossification (HP:0006257)2.02978450
110Germ cell neoplasia (HP:0100728)2.01527602
111Arterial tortuosity (HP:0005116)1.99297425
112Mitral regurgitation (HP:0001653)1.99295821
113Supranuclear gaze palsy (HP:0000605)1.98589034
114Hyperinsulinemic hypoglycemia (HP:0000825)1.98033129
115Enlarged kidneys (HP:0000105)1.97642410
116Hypoventilation (HP:0002791)1.97131840
117Broad metatarsal (HP:0001783)1.96921306
118Pseudobulbar signs (HP:0002200)1.95825609
119Ankle contracture (HP:0006466)1.95212575
120Hyperglycemia (HP:0003074)1.94499646
121Atrophic scars (HP:0001075)1.93808426
122Torticollis (HP:0000473)1.93461301
123Renovascular hypertension (HP:0100817)1.93428437
124Abnormality of the lower motor neuron (HP:0002366)1.92481315
125Abnormality of dentin (HP:0010299)1.91173758
126Abnormal enzyme/coenzyme activity (HP:0012379)1.90215061
127Lymphangioma (HP:0100764)1.89908700
128Bowel diverticulosis (HP:0005222)1.89582422
129Enlarged penis (HP:0000040)1.89324878
130Ankle clonus (HP:0011448)1.87359420
131Status epilepticus (HP:0002133)1.86540788
132Amyloidosis (HP:0011034)1.86256545
133Partial duplication of thumb phalanx (HP:0009944)1.86142433
134Elfin facies (HP:0004428)1.86067738
135Genu recurvatum (HP:0002816)1.85769900
136Hepatoblastoma (HP:0002884)1.84398034
137Nephritis (HP:0000123)1.84377532
138Broad face (HP:0000283)1.84193575
139Abnormal cartilage morphology (HP:0002763)1.82694099
140Nephrolithiasis (HP:0000787)1.82354921
141Abnormality of dicarboxylic acid metabolism (HP:0010995)1.82088988
142Dicarboxylic aciduria (HP:0003215)1.82088988
143Broad palm (HP:0001169)1.81738759
144Abnormality of transition element cation homeostasis (HP:0011030)1.81460149
145Lethargy (HP:0001254)1.80771724
146Megalencephaly (HP:0001355)1.80692354
147Focal seizures (HP:0007359)1.79644575
148Menorrhagia (HP:0000132)1.79469723
149Vitreoretinal degeneration (HP:0000655)1.77373301
150Upper limb amyotrophy (HP:0009129)1.77159431
151Distal upper limb amyotrophy (HP:0007149)1.77159431
152Hyperextensible skin (HP:0000974)1.76355088
153Focal motor seizures (HP:0011153)1.76326810
154Spinal rigidity (HP:0003306)1.75770459
155Disproportionate tall stature (HP:0001519)1.74781084
156Achilles tendon contracture (HP:0001771)1.74631531
157Annular pancreas (HP:0001734)1.74131462
158Abnormality of iron homeostasis (HP:0011031)1.73473737
159Relative macrocephaly (HP:0004482)1.72864619
160Polycythemia (HP:0001901)1.72440025
161Fragile skin (HP:0001030)1.69694899
162Advanced eruption of teeth (HP:0006288)1.68140720
163Lower limb asymmetry (HP:0100559)1.67742892
164Wormian bones (HP:0002645)1.66935997
165Biconcave vertebral bodies (HP:0004586)1.66654137
166Trigonocephaly (HP:0000243)1.66373399
167Abnormal hand bone ossification (HP:0010660)1.65928642
168Thin ribs (HP:0000883)1.65827504
169Action tremor (HP:0002345)1.64946652
170Precocious puberty (HP:0000826)1.63854995
171Wide anterior fontanel (HP:0000260)1.63160280
172Long palpebral fissure (HP:0000637)1.62699450
173Increased variability in muscle fiber diameter (HP:0003557)1.62574957
174Testicular neoplasm (HP:0010788)1.61680582
175Partial duplication of the phalanx of hand (HP:0009999)1.59854355
176Neonatal death (HP:0003811)1.59366536
177Premature skin wrinkling (HP:0100678)1.58625364
178Mitral valve prolapse (HP:0001634)1.57308639
179Hand muscle atrophy (HP:0009130)1.56965786
180Abnormality of the aortic arch (HP:0012303)1.56885806
181Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.56646751
182Hammertoe (HP:0001765)1.56275716
183Midface retrusion (HP:0011800)1.54795745
184Hemangiomatosis (HP:0007461)1.53827756
185Abnormality of the middle phalanges of the toes (HP:0010183)1.52094841
186Stridor (HP:0010307)1.52057088
187Coxa vara (HP:0002812)1.51024273
188Gonadal dysgenesis (HP:0000133)1.49918962
189Soft skin (HP:0000977)1.49682888
190High anterior hairline (HP:0009890)1.49566899
191Lumbar hyperlordosis (HP:0002938)1.49529452

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN13.94646294
2SIK13.62017471
3TRIB33.56879664
4BCKDK3.50054124
5PKN23.23681841
6LATS12.90428312
7FGFR42.76695545
8SMG12.68273422
9MARK12.62110664
10PRPF4B2.40345060
11PRKD32.29998576
12CDK122.23993375
13EPHA22.22693410
14EPHA42.16839434
15PTK62.14744422
16RIPK12.06963440
17NTRK22.04370986
18MAP3K101.98612658
19PAK61.81802586
20LATS21.79038073
21CAMK1D1.76902787
22ICK1.73648170
23ERBB41.69816099
24NTRK31.68703911
25PTK21.61976513
26PDGFRA1.54018254
27DAPK21.50491054
28FLT31.46556526
29MARK21.46342893
30CASK1.45298539
31TAOK31.44323267
32MAP3K71.35559200
33CAMK1G1.33629417
34BMX1.32277042
35EEF2K1.31471519
36MAP2K41.30396528
37MET1.29011908
38MST1R1.28933354
39MAPK111.26419555
40MTOR1.23670253
41INSRR1.23253257
42STK38L1.22181907
43UHMK11.21732560
44CDK61.21240527
45ERBB21.14490141
46TGFBR21.10652230
47RPS6KA21.10210858
48DYRK1B1.05196643
49RET1.04746016
50MAPK150.97932009
51ARAF0.97793767
52DDR20.95937823
53WNK30.94790200
54MINK10.91663838
55JAK20.91439643
56SGK30.91398912
57CDK150.89070643
58GRK60.88092210
59MAP3K90.87068786
60STK380.86385888
61NTRK10.83988598
62EPHB10.83835032
63SGK4940.83379217
64TAOK10.83229438
65NEK10.82821282
66PRKAA10.82728911
67CDK11A0.82604480
68CDK180.82280088
69FRK0.81634224
70CDK50.80299245
71GSK3A0.80053178
72ROCK20.75785483
73DMPK0.69631336
74PRKAA20.69487144
75CDK140.69289012
76EPHB20.66897175
77ALK0.66398425
78TESK10.65333876
79PRKD20.63356629
80STK30.63145003
81PRKCZ0.62923418
82LMTK20.62825254
83FGFR20.62270040
84TAOK20.62052883
85PDGFRB0.62043476
86DYRK20.61892637
87CDC42BPA0.61780162
88WNK40.61193133
89CAMKK10.61182013
90MAP3K60.60871242
91FER0.60665463
92JAK10.60267667
93PHKG20.60145418
94PHKG10.60145418
95SCYL20.59077114
96PRKCH0.58991383
97TYK20.57791331
98MAPK120.57116699
99MAPK100.56676331
100MAP2K30.56433471
101CAMK2B0.56386985
102NEK60.56059130
103MAP2K10.55258373
104CAMK40.54665079
105MAP3K20.53439769
106TYRO30.53078230
107BRAF0.52507963
108MAP3K30.52411580
109ABL20.51109064
110KSR10.50444487
111FGFR30.49394035
112PAK20.48948916
113CDK40.48476107
114RPS6KC10.47947880
115RPS6KL10.47947880
116FGFR10.46651233
117PRKACG0.46475148
118TTN0.46327427
119MAP3K110.45362148
120NEK90.44921793
121HIPK20.44691157
122CAMK2G0.44350304
123MAP2K20.44199802
124PAK30.43889138
125STK110.43547386
126EGFR0.43166896
127CAMK10.41801729
128DAPK10.41716793
129PRKCG0.41538828
130KSR20.41195012
131CDK70.40056330
132MAP3K10.39894558
133EPHA30.39261675
134IRAK20.39154364
135PAK40.38807608
136PIK3CG0.38117762
137RPS6KA10.37144216
138ROCK10.36830881
139SIK20.36616698
140PDPK10.36433993
141MAPK70.36146144
142SGK20.36032966
143AKT20.35097679
144CSK0.35081826
145BRD40.33817661
146CHUK0.33386758
147SGK2230.32708416

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.02784737
2Nitrogen metabolism_Homo sapiens_hsa009103.82427752
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.59635805
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.36470577
5Arginine biosynthesis_Homo sapiens_hsa002203.35595410
6Tryptophan metabolism_Homo sapiens_hsa003802.62512281
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.61037912
8Complement and coagulation cascades_Homo sapiens_hsa046102.53786963
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.49371784
10Fatty acid degradation_Homo sapiens_hsa000712.42201033
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.33793540
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.29454382
13Butanoate metabolism_Homo sapiens_hsa006502.12290780
14Pentose and glucuronate interconversions_Homo sapiens_hsa000402.11475825
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.98774772
16Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.89822710
172-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.89593548
18PPAR signaling pathway_Homo sapiens_hsa033201.86368289
19Fatty acid metabolism_Homo sapiens_hsa012121.85033363
20Bile secretion_Homo sapiens_hsa049761.83054443
21Peroxisome_Homo sapiens_hsa041461.76950010
22Long-term potentiation_Homo sapiens_hsa047201.73934333
23Propanoate metabolism_Homo sapiens_hsa006401.71266219
24Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.71188052
25Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.67798230
26Histidine metabolism_Homo sapiens_hsa003401.63730010
27Steroid hormone biosynthesis_Homo sapiens_hsa001401.62367721
28Notch signaling pathway_Homo sapiens_hsa043301.61352963
29Selenocompound metabolism_Homo sapiens_hsa004501.58506664
30Synaptic vesicle cycle_Homo sapiens_hsa047211.58140512
31Chemical carcinogenesis_Homo sapiens_hsa052041.58110158
32beta-Alanine metabolism_Homo sapiens_hsa004101.57485235
33Staphylococcus aureus infection_Homo sapiens_hsa051501.56789758
34Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.56660836
35Axon guidance_Homo sapiens_hsa043601.54955784
36Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.49959709
37Caffeine metabolism_Homo sapiens_hsa002321.48866709
38Drug metabolism - other enzymes_Homo sapiens_hsa009831.47116168
39Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.45116439
40Glioma_Homo sapiens_hsa052141.44609342
41Basal cell carcinoma_Homo sapiens_hsa052171.43869120
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.43504922
43ECM-receptor interaction_Homo sapiens_hsa045121.39392657
44Phenylalanine metabolism_Homo sapiens_hsa003601.38015926
45Melanogenesis_Homo sapiens_hsa049161.37943718
46Retinol metabolism_Homo sapiens_hsa008301.37797703
47Thyroid hormone signaling pathway_Homo sapiens_hsa049191.37583665
48Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.35067179
49Lysine degradation_Homo sapiens_hsa003101.33504149
50Aldosterone synthesis and secretion_Homo sapiens_hsa049251.33174514
51Hedgehog signaling pathway_Homo sapiens_hsa043401.32272047
52Pyruvate metabolism_Homo sapiens_hsa006201.31965672
53Hippo signaling pathway_Homo sapiens_hsa043901.31080939
54Cocaine addiction_Homo sapiens_hsa050301.30357653
55Estrogen signaling pathway_Homo sapiens_hsa049151.29405734
56Nicotine addiction_Homo sapiens_hsa050331.27434597
57Biosynthesis of amino acids_Homo sapiens_hsa012301.27370971
58Glutamatergic synapse_Homo sapiens_hsa047241.25462970
59ErbB signaling pathway_Homo sapiens_hsa040121.25181257
60Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.23876009
61Starch and sucrose metabolism_Homo sapiens_hsa005001.22848998
62Amphetamine addiction_Homo sapiens_hsa050311.21723462
63Fat digestion and absorption_Homo sapiens_hsa049751.20963150
64Cysteine and methionine metabolism_Homo sapiens_hsa002701.20058877
65ABC transporters_Homo sapiens_hsa020101.18832096
66Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.18121186
67Circadian entrainment_Homo sapiens_hsa047131.15741239
68Maturity onset diabetes of the young_Homo sapiens_hsa049501.15078402
69Cyanoamino acid metabolism_Homo sapiens_hsa004601.13752533
70Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.12954929
71Tyrosine metabolism_Homo sapiens_hsa003501.12276148
72Insulin secretion_Homo sapiens_hsa049111.11458769
73Gap junction_Homo sapiens_hsa045401.11067157
74Carbon metabolism_Homo sapiens_hsa012001.11037952
75Neurotrophin signaling pathway_Homo sapiens_hsa047221.09828182
76Wnt signaling pathway_Homo sapiens_hsa043101.09632164
77GnRH signaling pathway_Homo sapiens_hsa049121.09196938
78Focal adhesion_Homo sapiens_hsa045101.07811806
79Sulfur metabolism_Homo sapiens_hsa009201.07062102
80Cholinergic synapse_Homo sapiens_hsa047251.06526132
81Gastric acid secretion_Homo sapiens_hsa049711.04918123
82VEGF signaling pathway_Homo sapiens_hsa043701.02864397
83Dopaminergic synapse_Homo sapiens_hsa047281.02403926
84Phospholipase D signaling pathway_Homo sapiens_hsa040721.00769770
85Arginine and proline metabolism_Homo sapiens_hsa003300.99967794
86Dilated cardiomyopathy_Homo sapiens_hsa054140.99810974
87Proteoglycans in cancer_Homo sapiens_hsa052050.93393827
88Tight junction_Homo sapiens_hsa045300.91902494
89GABAergic synapse_Homo sapiens_hsa047270.90390962
90Vitamin digestion and absorption_Homo sapiens_hsa049770.89707097
91Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.89654577
92Rap1 signaling pathway_Homo sapiens_hsa040150.88747343
93Folate biosynthesis_Homo sapiens_hsa007900.88283493
94Steroid biosynthesis_Homo sapiens_hsa001000.87646600
95Thyroid cancer_Homo sapiens_hsa052160.86626391
96MicroRNAs in cancer_Homo sapiens_hsa052060.85237308
97Sulfur relay system_Homo sapiens_hsa041220.84062051
98cAMP signaling pathway_Homo sapiens_hsa040240.84004544
99Oxytocin signaling pathway_Homo sapiens_hsa049210.83532977
100Vibrio cholerae infection_Homo sapiens_hsa051100.82884409
101Choline metabolism in cancer_Homo sapiens_hsa052310.82704045
102Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.81151843
103Renal cell carcinoma_Homo sapiens_hsa052110.79208941
104Phosphatidylinositol signaling system_Homo sapiens_hsa040700.79082664
105Fatty acid biosynthesis_Homo sapiens_hsa000610.77054173
106Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.76549173
107cGMP-PKG signaling pathway_Homo sapiens_hsa040220.74862194
108Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.74465794
109Colorectal cancer_Homo sapiens_hsa052100.73790053
110Fatty acid elongation_Homo sapiens_hsa000620.73111392
111Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.72872477
112One carbon pool by folate_Homo sapiens_hsa006700.72142278
113Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.72075849
114AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.72057561
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.70914320
116Long-term depression_Homo sapiens_hsa047300.69948202
117Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68950450
118Glycerolipid metabolism_Homo sapiens_hsa005610.68216108
119Inositol phosphate metabolism_Homo sapiens_hsa005620.67195364
120Vitamin B6 metabolism_Homo sapiens_hsa007500.66015292
121Morphine addiction_Homo sapiens_hsa050320.65142039
122Renin secretion_Homo sapiens_hsa049240.64814580
123Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.62285765
124Prostate cancer_Homo sapiens_hsa052150.62071011
125Other glycan degradation_Homo sapiens_hsa005110.60605962
126Regulation of actin cytoskeleton_Homo sapiens_hsa048100.59988264
127Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.55692254
128Insulin resistance_Homo sapiens_hsa049310.55321436
129Glutathione metabolism_Homo sapiens_hsa004800.46806715
130Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46780122
131Pentose phosphate pathway_Homo sapiens_hsa000300.42312478
132Prion diseases_Homo sapiens_hsa050200.40711344
133Adipocytokine signaling pathway_Homo sapiens_hsa049200.39918179
134Fructose and mannose metabolism_Homo sapiens_hsa000510.36833782
135Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.33059926
136Bladder cancer_Homo sapiens_hsa052190.33055291
137Galactose metabolism_Homo sapiens_hsa000520.32945589
138AMPK signaling pathway_Homo sapiens_hsa041520.32155278
139Glucagon signaling pathway_Homo sapiens_hsa049220.31195437
140Metabolic pathways_Homo sapiens_hsa011000.22684000
141Insulin signaling pathway_Homo sapiens_hsa049100.21473419
142Central carbon metabolism in cancer_Homo sapiens_hsa052300.21307796
143Longevity regulating pathway - mammal_Homo sapiens_hsa042110.15427499
144alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.13953734
145Glycerophospholipid metabolism_Homo sapiens_hsa005640.12986991
146mTOR signaling pathway_Homo sapiens_hsa041500.12033485
147Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.10736065
148Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.08801673
149Glycosaminoglycan degradation_Homo sapiens_hsa005310.08740897
150Amoebiasis_Homo sapiens_hsa051460.07888109
151* Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.04900179
152Type II diabetes mellitus_Homo sapiens_hsa049300.04089818
153Thyroid hormone synthesis_Homo sapiens_hsa049180.04019233
154Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.03700212
155Adherens junction_Homo sapiens_hsa045200.03329843
156Carbohydrate digestion and absorption_Homo sapiens_hsa049730.02732038
157Protein digestion and absorption_Homo sapiens_hsa049740.02322850
158Ovarian steroidogenesis_Homo sapiens_hsa049130.01170907
159Chronic myeloid leukemia_Homo sapiens_hsa05220-0.0494908
160Non-small cell lung cancer_Homo sapiens_hsa05223-0.0471291
161Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.0469011
162Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0368392
163Endometrial cancer_Homo sapiens_hsa05213-0.0314481
164Linoleic acid metabolism_Homo sapiens_hsa00591-0.0164033

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