ACKR2

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 beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1lymph vessel development (GO:0001945)6.19500063
2cartilage development involved in endochondral bone morphogenesis (GO:0060351)5.86985703
3keratan sulfate catabolic process (GO:0042340)5.48428408
4regulation of endothelial cell differentiation (GO:0045601)5.37899352
5surfactant homeostasis (GO:0043129)4.98462128
6cartilage condensation (GO:0001502)4.78935308
7cell aggregation (GO:0098743)4.78935308
8positive regulation of extracellular matrix organization (GO:1903055)4.70418067
9behavioral response to nicotine (GO:0035095)4.67385294
10vascular endothelial growth factor signaling pathway (GO:0038084)4.63468463
11cellular ketone body metabolic process (GO:0046950)4.53305442
12negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)4.49363173
13positive regulation of endothelial cell differentiation (GO:0045603)4.49358328
14indolalkylamine metabolic process (GO:0006586)4.11743411
15L-fucose catabolic process (GO:0042355)4.09447809
16fucose catabolic process (GO:0019317)4.09447809
17L-fucose metabolic process (GO:0042354)4.09447809
18ketone body metabolic process (GO:1902224)4.09044189
19blood vessel maturation (GO:0001955)4.07026690
20negative regulation of fibrinolysis (GO:0051918)4.02094088
21positive regulation of vasculogenesis (GO:2001214)3.97203830
22chondrocyte development (GO:0002063)3.95803703
23endothelial tube morphogenesis (GO:0061154)3.92651043
24morphogenesis of an endothelium (GO:0003159)3.92651043
25response to pheromone (GO:0019236)3.92380008
26regulation of plasminogen activation (GO:0010755)3.91336960
27endothelial cell morphogenesis (GO:0001886)3.87142671
28antigen processing and presentation of endogenous antigen (GO:0019883)3.86456052
29chemical homeostasis within a tissue (GO:0048875)3.83917553
30cellular glucuronidation (GO:0052695)3.81715805
31DNA deamination (GO:0045006)3.73438181
32lymphangiogenesis (GO:0001946)3.73418764
33positive regulation of chondrocyte differentiation (GO:0032332)3.72873979
34detection of light stimulus involved in visual perception (GO:0050908)3.63950510
35detection of light stimulus involved in sensory perception (GO:0050962)3.63950510
36sphingomyelin metabolic process (GO:0006684)3.57795373
37cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.50672985
38regulation of vasculogenesis (GO:2001212)3.48490823
39regulation of extracellular matrix disassembly (GO:0010715)3.47424802
40uronic acid metabolic process (GO:0006063)3.42438366
41glucuronate metabolic process (GO:0019585)3.42438366
42detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.42349539
43regulation of fibrinolysis (GO:0051917)3.41920824
44complement activation, classical pathway (GO:0006958)3.38121388
45complement activation, alternative pathway (GO:0006957)3.32034199
46amine catabolic process (GO:0009310)3.31661585
47cellular biogenic amine catabolic process (GO:0042402)3.31661585
48regulation of protein activation cascade (GO:2000257)3.27582765
49regulation of extracellular matrix organization (GO:1903053)3.24310584
50protein carboxylation (GO:0018214)3.22193857
51peptidyl-glutamic acid carboxylation (GO:0017187)3.22193857
52negative regulation of blood vessel endothelial cell migration (GO:0043537)3.21696301
53limb bud formation (GO:0060174)3.20363438
54dopamine transport (GO:0015872)3.19872209
55regulation of complement activation (GO:0030449)3.19772791
56regulation of B cell receptor signaling pathway (GO:0050855)3.17770389
57notochord development (GO:0030903)3.17523265
58complement activation (GO:0006956)3.16673787
59B cell receptor signaling pathway (GO:0050853)3.14531697
60erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.13086083
61L-phenylalanine catabolic process (GO:0006559)3.13086083
62indole-containing compound metabolic process (GO:0042430)3.09308324
63collagen fibril organization (GO:0030199)3.08935406
64endothelium development (GO:0003158)3.08490222
65water-soluble vitamin biosynthetic process (GO:0042364)3.05723390
66antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.04863220
67antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.04863220
68epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.04523576
69replacement ossification (GO:0036075)3.02272924
70endochondral ossification (GO:0001958)3.02272924
71multicellular organism reproduction (GO:0032504)3.01688127
72phosphatidylinositol acyl-chain remodeling (GO:0036149)3.01397784
73positive regulation of cartilage development (GO:0061036)2.98312737
74aromatic amino acid family catabolic process (GO:0009074)2.98302098
75photoreceptor cell maintenance (GO:0045494)2.98093824
76regulation of cholesterol homeostasis (GO:2000188)2.96883033
77axoneme assembly (GO:0035082)2.96152790
78platelet dense granule organization (GO:0060155)2.91939442
79reflex (GO:0060004)2.91473013
80behavioral response to ethanol (GO:0048149)2.90806153
81alpha-linolenic acid metabolic process (GO:0036109)2.90513385
82regulation of hexokinase activity (GO:1903299)2.90150272
83regulation of glucokinase activity (GO:0033131)2.90150272
84G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.89825964
85fibrinolysis (GO:0042730)2.89165595
86triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.88946681
87protein polyglutamylation (GO:0018095)2.88508930
88auditory receptor cell stereocilium organization (GO:0060088)2.87929879
89piRNA metabolic process (GO:0034587)2.84548853
90protein activation cascade (GO:0072376)2.84527757
91oxidative demethylation (GO:0070989)2.83495645
92indole-containing compound catabolic process (GO:0042436)2.82991639
93indolalkylamine catabolic process (GO:0046218)2.82991639
94tryptophan catabolic process (GO:0006569)2.82991639
95L-phenylalanine metabolic process (GO:0006558)2.81501410
96erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.81501410
97L-methionine salvage (GO:0071267)2.80772823
98L-methionine biosynthetic process (GO:0071265)2.80772823
99amino acid salvage (GO:0043102)2.80772823
100response to misfolded protein (GO:0051788)2.80292683
101S-adenosylmethionine metabolic process (GO:0046500)2.79175002
102benzene-containing compound metabolic process (GO:0042537)2.79078369
103negative regulation of endothelial cell proliferation (GO:0001937)2.77346568
104chondroitin sulfate biosynthetic process (GO:0030206)2.77296246
105signal peptide processing (GO:0006465)2.76315874
106acylglycerol homeostasis (GO:0055090)2.76246807
107triglyceride homeostasis (GO:0070328)2.76246807
108kynurenine metabolic process (GO:0070189)2.76228406
109alanine transport (GO:0032328)2.74190241
110high-density lipoprotein particle remodeling (GO:0034375)2.73553659
111hypotonic response (GO:0006971)2.72572332
112L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.72395885
113estrogen biosynthetic process (GO:0006703)2.72014802
114transcytosis (GO:0045056)2.71906989
115regulation of cilium movement (GO:0003352)2.71299913
116neural tube formation (GO:0001841)2.69357079
117negative regulation of blood coagulation (GO:0030195)2.69199025
118negative regulation of hemostasis (GO:1900047)2.69199025
119exogenous drug catabolic process (GO:0042738)2.68855168
120gamma-aminobutyric acid transport (GO:0015812)2.68843295
121regulation of interferon-beta biosynthetic process (GO:0045357)2.68439307
122keratan sulfate biosynthetic process (GO:0018146)2.68312594
123glycerophospholipid catabolic process (GO:0046475)2.67696463
124sperm motility (GO:0030317)2.67174676
125negative regulation of endothelial cell migration (GO:0010596)2.65712181
126sulfation (GO:0051923)2.65580107
127neuronal action potential (GO:0019228)2.65484496
128regulation of hippo signaling (GO:0035330)2.63782669
129bile acid biosynthetic process (GO:0006699)2.63552630
130establishment of protein localization to Golgi (GO:0072600)2.62485092
131primary amino compound metabolic process (GO:1901160)2.61762845
132thyroid hormone metabolic process (GO:0042403)2.61466666
133vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.61284450
134endothelial cell differentiation (GO:0045446)2.60862758
135NAD biosynthetic process (GO:0009435)2.60502631
136negative regulation of wound healing (GO:0061045)2.59519884
137epithelial cilium movement (GO:0003351)2.58925229
138tryptophan metabolic process (GO:0006568)2.57212738
139arginine metabolic process (GO:0006525)2.57204117
140aromatic amino acid family metabolic process (GO:0009072)2.57059766
141prostate gland growth (GO:0060736)2.56660218
142regulation of neurotransmitter uptake (GO:0051580)2.56478087
143respiratory chain complex IV assembly (GO:0008535)2.56225774
144negative regulation of mast cell activation (GO:0033004)2.55994247
145negative regulation of coagulation (GO:0050819)2.55927485
146drug catabolic process (GO:0042737)2.55623393
147endocardial cushion morphogenesis (GO:0003203)2.55346622
148protein K11-linked deubiquitination (GO:0035871)2.55291494
149fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.54515397
150cellular response to BMP stimulus (GO:0071773)2.54358818
151response to BMP (GO:0071772)2.54358818
152positive regulation of muscle hypertrophy (GO:0014742)2.54200214
153positive regulation of cardiac muscle hypertrophy (GO:0010613)2.54200214
154negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.53806024
155negative regulation of translation, ncRNA-mediated (GO:0040033)2.53806024
156regulation of translation, ncRNA-mediated (GO:0045974)2.53806024
157adaptation of signaling pathway (GO:0023058)2.53266755
158protein localization to cilium (GO:0061512)2.52267022
159UDP-N-acetylglucosamine metabolic process (GO:0006047)2.51482927
160preassembly of GPI anchor in ER membrane (GO:0016254)2.50101642
161cornea development in camera-type eye (GO:0061303)2.49531656
162DNA methylation involved in gamete generation (GO:0043046)2.48818084
163methionine biosynthetic process (GO:0009086)2.48704563
164arginine catabolic process (GO:0006527)2.48308618
165proline transport (GO:0015824)2.47202940
166patterning of blood vessels (GO:0001569)2.47026903
167positive regulation of cell junction assembly (GO:1901890)2.46969211
168positive regulation of focal adhesion assembly (GO:0051894)2.46969211
169positive regulation of p38MAPK cascade (GO:1900745)2.46920220
170phosphatidylserine acyl-chain remodeling (GO:0036150)2.46572711
171glomerular filtration (GO:0003094)2.46504193
172photoreceptor cell development (GO:0042461)2.45586767
173peptidyl-tyrosine autophosphorylation (GO:0038083)2.45024563
174negative regulation of cytosolic calcium ion concentration (GO:0051481)2.44597213
175parturition (GO:0007567)2.44063364
176positive regulation of glycolytic process (GO:0045821)2.43818479
177cAMP catabolic process (GO:0006198)2.43772456
178regulation of sarcomere organization (GO:0060297)2.43764343
179nonmotile primary cilium assembly (GO:0035058)2.43262591
180mannosylation (GO:0097502)2.43148721
181regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)2.42913685
182cilium organization (GO:0044782)2.42221049
183sulfur compound catabolic process (GO:0044273)2.42216649
184nephron tubule morphogenesis (GO:0072078)2.40503221
185nephron epithelium morphogenesis (GO:0072088)2.40503221
186protein complex biogenesis (GO:0070271)2.39605786
187regulation of action potential (GO:0098900)2.37047545
188cilium assembly (GO:0042384)2.37043281
189positive regulation of fatty acid transport (GO:2000193)2.36779390
190inner ear receptor stereocilium organization (GO:0060122)2.36582105
191cilium morphogenesis (GO:0060271)2.36350332
192serotonin metabolic process (GO:0042428)2.35562381

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.17236664
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.81186004
3GATA1_22025678_ChIP-Seq_K562_Human4.30687578
4RXR_22158963_ChIP-Seq_LIVER_Mouse3.77124938
5ZNF274_21170338_ChIP-Seq_K562_Hela3.34058797
6LXR_22158963_ChIP-Seq_LIVER_Mouse3.31166132
7EZH2_22144423_ChIP-Seq_EOC_Human3.20689095
8PPARA_22158963_ChIP-Seq_LIVER_Mouse3.13466928
9IRF8_22096565_ChIP-ChIP_GC-B_Human3.12087932
10GBX2_23144817_ChIP-Seq_PC3_Human3.11304788
11VDR_22108803_ChIP-Seq_LS180_Human3.04356397
12CLOCK_20551151_ChIP-Seq_293T_Human2.84417283
13PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.72229645
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.59809953
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.50162755
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.47121438
17AR_21572438_ChIP-Seq_LNCaP_Human2.37882444
18GATA2_21666600_ChIP-Seq_HMVEC_Human2.37877712
19NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.37387326
20FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.36107720
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.36071766
22RARG_19884340_ChIP-ChIP_MEFs_Mouse2.29139021
23SMAD_19615063_ChIP-ChIP_OVARY_Human2.25148452
24POU3F2_20337985_ChIP-ChIP_501MEL_Human2.21889737
25STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.14385501
26FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.13755542
27EGR1_23403033_ChIP-Seq_LIVER_Mouse2.10665530
28IGF1R_20145208_ChIP-Seq_DFB_Human2.08214697
29CTBP1_25329375_ChIP-Seq_LNCAP_Human2.07824819
30FLI1_27457419_Chip-Seq_LIVER_Mouse2.00918126
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.99512061
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.99250294
33P300_19829295_ChIP-Seq_ESCs_Human1.99044704
34TP63_17297297_ChIP-ChIP_HaCaT_Human1.96458507
35ER_23166858_ChIP-Seq_MCF-7_Human1.94275007
36NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.90964490
37FUS_26573619_Chip-Seq_HEK293_Human1.89668573
38ESR1_21235772_ChIP-Seq_MCF-7_Human1.87161796
39TAF15_26573619_Chip-Seq_HEK293_Human1.86703099
40CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.85510429
41AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.82103596
42BCAT_22108803_ChIP-Seq_LS180_Human1.76238571
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.75273913
44EWS_26573619_Chip-Seq_HEK293_Human1.70305100
45EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.69772191
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.68879324
47SMAD4_21799915_ChIP-Seq_A2780_Human1.65582367
48UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.62017718
49TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.61196727
50IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.60526355
51CBP_20019798_ChIP-Seq_JUKART_Human1.60526355
52TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.59943623
53RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.59206535
54STAT3_23295773_ChIP-Seq_U87_Human1.58563765
55AR_25329375_ChIP-Seq_VCAP_Human1.58090095
56PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57550549
57SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.57407136
58CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.57336937
59ELK3_25401928_ChIP-Seq_HUVEC_Human1.55680307
60PCGF2_27294783_Chip-Seq_ESCs_Mouse1.55585355
61STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.52764041
62RUNX_20019798_ChIP-Seq_JUKART_Human1.52321096
63TCF4_23295773_ChIP-Seq_U87_Human1.50910185
64ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.46715232
65FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.45782428
66KDM2B_26808549_Chip-Seq_SUP-B15_Human1.41779232
67SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39462653
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.38895177
69TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38524227
70POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.38524227
71TBX20_22328084_ChIP-Seq_HEART_Mouse1.38440751
72TBX20_22080862_ChIP-Seq_HEART_Mouse1.38440751
73TP53_22573176_ChIP-Seq_HFKS_Human1.37698755
74SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37377542
75NR3C1_21868756_ChIP-Seq_MCF10A_Human1.37250754
76TCF4_22108803_ChIP-Seq_LS180_Human1.37061619
77IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.35991809
78SOX2_19829295_ChIP-Seq_ESCs_Human1.35534610
79NANOG_19829295_ChIP-Seq_ESCs_Human1.35534610
80PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.34443241
81FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.34372638
82NFE2_27457419_Chip-Seq_LIVER_Mouse1.33604088
83ESR1_20079471_ChIP-ChIP_T-47D_Human1.33186088
84MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.33153050
85MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.32005309
86EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.31732462
87EZH2_27294783_Chip-Seq_NPCs_Mouse1.29936934
88TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29792295
89NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.29475825
90FOXA1_25329375_ChIP-Seq_VCAP_Human1.29151901
91FOXA1_27270436_Chip-Seq_PROSTATE_Human1.29151901
92E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.28242026
93IRF8_27001747_Chip-Seq_BMDM_Mouse1.27878866
94CJUN_26792858_Chip-Seq_BT549_Human1.27675587
95REST_21632747_ChIP-Seq_MESCs_Mouse1.26891601
96RUNX2_22187159_ChIP-Seq_PCA_Human1.26615874
97CBX2_27304074_Chip-Seq_ESCs_Mouse1.25882407
98TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25372271
99IRF1_19129219_ChIP-ChIP_H3396_Human1.25316735
100SMAD3_21741376_ChIP-Seq_EPCs_Human1.25126816
101GATA3_21878914_ChIP-Seq_MCF-7_Human1.24919480
102RXR_22108803_ChIP-Seq_LS180_Human1.24815611
103SMAD4_21741376_ChIP-Seq_EPCs_Human1.24350288
104PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24185279
105FOXA2_19822575_ChIP-Seq_HepG2_Human1.24129202
106HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.23623852
107VDR_24787735_ChIP-Seq_THP-1_Human1.21456821
108KLF5_20875108_ChIP-Seq_MESCs_Mouse1.21090756
109ZNF217_24962896_ChIP-Seq_MCF-7_Human1.20496947
110FOXO3_23340844_ChIP-Seq_DLD1_Human1.20395138
111PRDM14_20953172_ChIP-Seq_ESCs_Human1.20318171
112ETV2_25802403_ChIP-Seq_MESCs_Mouse1.20062269
113EP300_21415370_ChIP-Seq_HL-1_Mouse1.19908428
114RNF2_27304074_Chip-Seq_NSC_Mouse1.17942052
115GATA1_19941826_ChIP-Seq_K562_Human1.16982868
116CDX2_22108803_ChIP-Seq_LS180_Human1.16777898
117NANOG_18555785_Chip-Seq_ESCs_Mouse1.14412713
118SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14214894
119BP1_19119308_ChIP-ChIP_Hs578T_Human1.13955965
120NCOR_22424771_ChIP-Seq_293T_Human1.13093443
121SALL1_21062744_ChIP-ChIP_HESCs_Human1.13029037
122SALL4_18804426_ChIP-ChIP_XEN_Mouse1.12704272
123SOX2_20726797_ChIP-Seq_SW620_Human1.12491860
124HIF1A_21447827_ChIP-Seq_MCF-7_Human1.12127218
125MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.11953755
126FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11687484
127SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.11300727
128EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.10634257
129TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10598921
130OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10379364
131CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.10342106
132DROSHA_22980978_ChIP-Seq_HELA_Human1.09496602
133AR_20517297_ChIP-Seq_VCAP_Human1.09134779
134TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09022128
135HOXB7_26014856_ChIP-Seq_BT474_Human1.08959296
136FLI1_21867929_ChIP-Seq_TH2_Mouse1.08923112
137P53_22387025_ChIP-Seq_ESCs_Mouse1.08358950
138PPAR_26484153_Chip-Seq_NCI-H1993_Human1.08295196
139BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08235054
140CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.07941338
141CRX_20693478_ChIP-Seq_RETINA_Mouse1.07215207
142RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06971359
143STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.06879046
144RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.06786149
145Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.06449933
146LXR_22292898_ChIP-Seq_THP-1_Human1.06267473
147GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.05957526
148NFIB_24661679_ChIP-Seq_LUNG_Mouse1.04699810
149STAT3_18555785_Chip-Seq_ESCs_Mouse1.03817148
150GATA2_19941826_ChIP-Seq_K562_Human1.03111318
151NOTCH1_21737748_ChIP-Seq_TLL_Human1.02834545
152ARNT_22903824_ChIP-Seq_MCF-7_Human1.01538704
153PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.01363861
154CDX2_20551321_ChIP-Seq_CACO-2_Human0.99928455
155MYC_22102868_ChIP-Seq_BL_Human0.99802991
156PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.99681285
157IRF8_21731497_ChIP-ChIP_J774_Mouse0.99673820
158KDM2B_26808549_Chip-Seq_K562_Human0.99436301
159E2F1_18555785_Chip-Seq_ESCs_Mouse0.98583035
160SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.97776989
161TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.97689371
162TAL1_26923725_Chip-Seq_HPCs_Mouse0.96944432
163HTT_18923047_ChIP-ChIP_STHdh_Human0.96476618
164TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.96392121
165NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.96188091
166NRF2_20460467_ChIP-Seq_MEFs_Mouse0.96188091
167TBL1_22424771_ChIP-Seq_293T_Human0.95955895
168EGR1_19032775_ChIP-ChIP_M12_Human0.95926612
169SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.95350257
170ETV1_20927104_ChIP-Seq_GIST48_Human0.95005743
171E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.94611897
172JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.93802494
173TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90458004
174CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.90031690
175NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.89492471
176VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.88997815
177RACK7_27058665_Chip-Seq_MCF-7_Human0.88924280
178JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.88607763
179CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.88486677
180MAF_26560356_Chip-Seq_TH1_Human0.87141811
181WT1_19549856_ChIP-ChIP_CCG9911_Human0.87069186
182SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.85994036
183SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.85994036
184KDM2B_26808549_Chip-Seq_DND41_Human0.85448898
185KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.85022248
186SPI1_23127762_ChIP-Seq_K562_Human0.83416411
187MYB_21317192_ChIP-Seq_ERMYB_Mouse0.80972371
188VDR_24763502_ChIP-Seq_THP-1_Human0.80956153
189FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.79113627
190IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.79036989
191TCF4_18268006_ChIP-ChIP_LS174T_Human0.78476865
192CDX2_19796622_ChIP-Seq_MESCs_Mouse0.77296795
193ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.76644186
194TP53_18474530_ChIP-ChIP_U2OS_Human0.74108825
195SMC1_22415368_ChIP-Seq_MEFs_Mouse0.72912779
196ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.72622449
197P300_27058665_Chip-Seq_ZR-75-30cells_Human0.72552872

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010368_abnormal_lymphatic_system4.58091372
2MP0002139_abnormal_hepatobiliary_system4.20628751
3MP0001879_abnormal_lymphatic_vessel4.11129418
4MP0003195_calcinosis3.63607746
5MP0002933_joint_inflammation3.60548323
6MP0005360_urolithiasis3.07681264
7MP0002138_abnormal_hepatobiliary_system2.89285848
8MP0002876_abnormal_thyroid_physiology2.70920039
9MP0005551_abnormal_eye_electrophysiolog2.56050212
10MP0006054_spinal_hemorrhage2.55810388
11MP0003646_muscle_fatigue2.55535413
12MP0005085_abnormal_gallbladder_physiolo2.37237397
13MP0005645_abnormal_hypothalamus_physiol2.33386942
14MP0005503_abnormal_tendon_morphology2.33044000
15MP0008877_abnormal_DNA_methylation2.31333588
16MP0004134_abnormal_chest_morphology2.29087634
17MP0002282_abnormal_trachea_morphology2.27238049
18MP0001501_abnormal_sleep_pattern2.25583673
19MP0005365_abnormal_bile_salt2.22181199
20MP0005646_abnormal_pituitary_gland2.13857428
21MP0003303_peritoneal_inflammation2.11954939
22MP0006276_abnormal_autonomic_nervous2.10510314
23MP0008872_abnormal_physiological_respon2.09589689
24MP0005167_abnormal_blood-brain_barrier2.09570493
25MP0001968_abnormal_touch/_nociception2.08267850
26MP0004272_abnormal_basement_membrane2.07399416
27MP0008875_abnormal_xenobiotic_pharmacok2.05443766
28MP0003724_increased_susceptibility_to2.04543021
29MP0009745_abnormal_behavioral_response2.01409682
30MP0009046_muscle_twitch2.01058660
31MP0002102_abnormal_ear_morphology1.94426518
32MP0009780_abnormal_chondrocyte_physiolo1.92298506
33MP0003300_gastrointestinal_ulcer1.88817161
34MP0001790_abnormal_immune_system1.87005182
35MP0005387_immune_system_phenotype1.87005182
36MP0001835_abnormal_antigen_presentation1.86212210
37MP0002909_abnormal_adrenal_gland1.83308888
38MP0001958_emphysema1.81888944
39MP0002837_dystrophic_cardiac_calcinosis1.79623580
40MP0000163_abnormal_cartilage_morphology1.79310631
41MP0000569_abnormal_digit_pigmentation1.76732434
42MP0002638_abnormal_pupillary_reflex1.75533885
43MP0004142_abnormal_muscle_tone1.73582213
44MP0002736_abnormal_nociception_after1.71646144
45MP0000372_irregular_coat_pigmentation1.70734556
46MP0005410_abnormal_fertilization1.70513842
47MP0005253_abnormal_eye_physiology1.68121627
48MP0003878_abnormal_ear_physiology1.65703107
49MP0005377_hearing/vestibular/ear_phenot1.65703107
50MP0010329_abnormal_lipoprotein_level1.64421345
51MP0003191_abnormal_cellular_cholesterol1.64421232
52MP0000767_abnormal_smooth_muscle1.64110376
53MP0001873_stomach_inflammation1.63480535
54MP0010386_abnormal_urinary_bladder1.63217510
55MP0008438_abnormal_cutaneous_collagen1.63158269
56MP0005084_abnormal_gallbladder_morpholo1.62319104
57MP0001533_abnormal_skeleton_physiology1.61798704
58MP0004885_abnormal_endolymph1.59475656
59MP0000465_gastrointestinal_hemorrhage1.56699916
60MP0002254_reproductive_system_inflammat1.56653867
61MP0002938_white_spotting1.55842836
62MP0002272_abnormal_nervous_system1.54254413
63MP0006072_abnormal_retinal_apoptosis1.53827550
64MP0000427_abnormal_hair_cycle1.51253896
65MP0004043_abnormal_pH_regulation1.50773021
66MP0004782_abnormal_surfactant_physiolog1.49240884
67MP0003705_abnormal_hypodermis_morpholog1.49024909
68MP0005379_endocrine/exocrine_gland_phen1.48063582
69MP0001800_abnormal_humoral_immune1.45596926
70MP0001485_abnormal_pinna_reflex1.45322824
71MP0003252_abnormal_bile_duct1.44792723
72MP0002896_abnormal_bone_mineralization1.44104690
73MP0004133_heterotaxia1.42617879
74MP0000685_abnormal_immune_system1.42159898
75MP0002733_abnormal_thermal_nociception1.40760506
76MP0003011_delayed_dark_adaptation1.40330911
77MP0002115_abnormal_skeleton_extremities1.39630144
78MP0003656_abnormal_erythrocyte_physiolo1.39263359
79MP0000013_abnormal_adipose_tissue1.38468971
80MP0005275_abnormal_skin_tensile1.38292444
81MP0003880_abnormal_central_pattern1.38263414
82MP0002089_abnormal_postnatal_growth/wei1.37551104
83MP0000751_myopathy1.36761018
84MP0001905_abnormal_dopamine_level1.36395832
85MP0000343_altered_response_to1.34987678
86MP0003566_abnormal_cell_adhesion1.33705247
87MP0003787_abnormal_imprinting1.32692595
88MP0002557_abnormal_social/conspecific_i1.32571161
89MP0005670_abnormal_white_adipose1.31509768
90MP0001486_abnormal_startle_reflex1.30719047
91MP0002572_abnormal_emotion/affect_behav1.29488609
92MP0000230_abnormal_systemic_arterial1.29193482
93MP0001970_abnormal_pain_threshold1.26906859
94MP0003806_abnormal_nucleotide_metabolis1.26507627
95MP0002163_abnormal_gland_morphology1.25698848
96MP0000631_abnormal_neuroendocrine_gland1.24144371
97MP0000249_abnormal_blood_vessel1.22968273
98MP0005164_abnormal_response_to1.21499515
99MP0002064_seizures1.20030275
100MP0005174_abnormal_tail_pigmentation1.19850003
101MP0005389_reproductive_system_phenotype1.19305666
102MP0008004_abnormal_stomach_pH1.18429344
103MP0003091_abnormal_cell_migration1.18098012
104MP0000383_abnormal_hair_follicle1.17755502
105MP0002113_abnormal_skeleton_development1.17430489
106MP0004147_increased_porphyrin_level1.16514241
107MP0000609_abnormal_liver_physiology1.15614000
108MP0005390_skeleton_phenotype1.15520278
109MP0006292_abnormal_olfactory_placode1.14778077
110MP0004019_abnormal_vitamin_homeostasis1.14410094
111MP0003436_decreased_susceptibility_to1.13662397
112MP0001986_abnormal_taste_sensitivity1.13473112
113MP0002735_abnormal_chemical_nociception1.13458680
114MP0002928_abnormal_bile_duct1.12178486
115MP0009840_abnormal_foam_cell1.11664304
116MP0002452_abnormal_antigen_presenting1.10485710
117MP0002160_abnormal_reproductive_system1.09923808
118MP0001984_abnormal_olfaction1.08214858
119MP0004084_abnormal_cardiac_muscle1.07499381
120MP0006138_congestive_heart_failure1.07182581
121MP0002234_abnormal_pharynx_morphology1.06970604
122MP0004484_altered_response_of1.06586086
123MP0005083_abnormal_biliary_tract1.06040147
124MP0005508_abnormal_skeleton_morphology1.04415626
125MP0009250_abnormal_appendicular_skeleto1.02881700
126MP0002295_abnormal_pulmonary_circulatio1.02571607
127MP0003718_maternal_effect1.02374226
128MP0003279_aneurysm1.02013334
129MP0001440_abnormal_grooming_behavior1.01955290
130MP0001919_abnormal_reproductive_system1.01342541
131MP0001542_abnormal_bone_strength1.00312393
132MP0002128_abnormal_blood_circulation0.99147250
133MP0005595_abnormal_vascular_smooth0.98997926
134MP0004145_abnormal_muscle_electrophysio0.96360378
135MP0005166_decreased_susceptibility_to0.96256560
136MP0002067_abnormal_sensory_capabilities0.96158334
137MP0005319_abnormal_enzyme/_coenzyme0.96007505
138MP0003136_yellow_coat_color0.95277912
139MP0003698_abnormal_male_reproductive0.95199591
140MP0001270_distended_abdomen0.93392962
141MP0003638_abnormal_response/metabolism_0.93255560
142MP0009764_decreased_sensitivity_to0.92670330
143MP0005636_abnormal_mineral_homeostasis0.92341508
144MP0003795_abnormal_bone_structure0.91702090
145MP0002118_abnormal_lipid_homeostasis0.91663323
146MP0005195_abnormal_posterior_eye0.91399053
147MP0005647_abnormal_sex_gland0.91234500
148MP0001765_abnormal_ion_homeostasis0.90681733
149MP0003868_abnormal_feces_composition0.90195575
150MP0009697_abnormal_copulation0.90128263
151MP0003283_abnormal_digestive_organ0.90038912
152MP0002693_abnormal_pancreas_physiology0.89736621
153MP0004215_abnormal_myocardial_fiber0.89345121
154MP0004510_myositis0.89142488
155MP0008775_abnormal_heart_ventricle0.88979244
156MP0005386_behavior/neurological_phenoty0.88128420
157MP0004924_abnormal_behavior0.88128420
158MP0004742_abnormal_vestibular_system0.87477687
159MP0008995_early_reproductive_senescence0.87346511
160MP0002136_abnormal_kidney_physiology0.85971489
161MP0004036_abnormal_muscle_relaxation0.85771241
162MP0005332_abnormal_amino_acid0.85152303
163MP0005000_abnormal_immune_tolerance0.85094241
164MP0002229_neurodegeneration0.83070867
165MP0005023_abnormal_wound_healing0.82958248
166MP0003786_premature_aging0.82446656
167MP0001188_hyperpigmentation0.81329830
168MP0002998_abnormal_bone_remodeling0.81328640
169MP0003635_abnormal_synaptic_transmissio0.81019118
170MP0002063_abnormal_learning/memory/cond0.80391721
171MP0000639_abnormal_adrenal_gland0.80235492
172MP0008469_abnormal_protein_level0.79646834
173MP0001663_abnormal_digestive_system0.79626532
174MP0001756_abnormal_urination0.78690103
175MP0000762_abnormal_tongue_morphology0.77399229
176MP0003828_pulmonary_edema0.76800434
177MP0001851_eye_inflammation0.76227242
178MP0003075_altered_response_to0.75190989
179MP0004883_abnormal_blood_vessel0.74056291
180MP0002420_abnormal_adaptive_immunity0.73128205
181MP0002723_abnormal_immune_serum0.72973754
182MP0001544_abnormal_cardiovascular_syste0.72040101
183MP0005385_cardiovascular_system_phenoty0.72040101
184MP0002419_abnormal_innate_immunity0.70461237
185MP0001845_abnormal_inflammatory_respons0.69357643
186MP0009643_abnormal_urine_homeostasis0.69276874

Predicted human phenotypes

RankGene SetZ-score
1Epiphyseal dysplasia (HP:0002656)8.16205493
2Irregular epiphyses (HP:0010582)7.39268698
3Abnormal tarsal ossification (HP:0008369)6.52799012
4Small epiphyses (HP:0010585)6.51417196
5Vitreoretinal degeneration (HP:0000655)5.88340975
6Cupped ribs (HP:0000887)5.77700748
7Hypoplastic ischia (HP:0003175)5.39908922
8Aplasia/Hypoplasia of the pubic bone (HP:0009104)5.09734954
9Flat acetabular roof (HP:0003180)4.93137379
10Abnormality of the ischium (HP:0003174)4.86272303
11Abnormal foot bone ossification (HP:0010675)4.79121849
12Flat capital femoral epiphysis (HP:0003370)4.51669793
13Pancreatic cysts (HP:0001737)4.45807113
14Delayed epiphyseal ossification (HP:0002663)4.38720818
15Congenital stationary night blindness (HP:0007642)4.28567691
16Genu varum (HP:0002970)4.26705476
17Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)4.26576300
18Absent epiphyses (HP:0010577)4.26576300
19Metaphyseal cupping (HP:0003021)4.20479671
20Pancreatic fibrosis (HP:0100732)4.06230820
21Abnormality of femoral epiphyses (HP:0006499)4.02648500
22Abnormality involving the epiphyses of the lower limbs (HP:0006500)4.02648500
23True hermaphroditism (HP:0010459)3.98041326
24Arthropathy (HP:0003040)3.91875581
25Abnormality of the vertebral endplates (HP:0005106)3.91347311
26Molar tooth sign on MRI (HP:0002419)3.89781942
27Abnormality of midbrain morphology (HP:0002418)3.89781942
28Neonatal short-limb short stature (HP:0008921)3.73003212
29Abnormality of the epiphysis of the femoral head (HP:0010574)3.68680435
30Short femoral neck (HP:0100864)3.68051485
31Irregular vertebral endplates (HP:0003301)3.57369396
32Hyperventilation (HP:0002883)3.51796324
33Abnormality of carpal bone ossification (HP:0006257)3.46324225
34Osteoarthritis (HP:0002758)3.43841259
35Flattened epiphyses (HP:0003071)3.43808743
36Nephronophthisis (HP:0000090)3.40828718
37Abnormality of the renal cortex (HP:0011035)3.38176770
38Ovoid vertebral bodies (HP:0003300)3.38025277
39Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)3.35501521
40Abnormality of the femoral head (HP:0003368)3.35228585
41Abolished electroretinogram (ERG) (HP:0000550)3.14339979
42Abnormality of the renal medulla (HP:0100957)3.12496926
43Metaphyseal irregularity (HP:0003025)3.12162688
44Deep venous thrombosis (HP:0002625)3.06460220
45Protuberant abdomen (HP:0001538)3.03140901
46Attenuation of retinal blood vessels (HP:0007843)3.01937006
47Medial flaring of the eyebrow (HP:0010747)2.96470189
48Abnormal vertebral ossification (HP:0100569)2.94447681
49Gaze-evoked nystagmus (HP:0000640)2.93461635
50Genetic anticipation (HP:0003743)2.89369880
51Progressive cerebellar ataxia (HP:0002073)2.84118451
52Cystic liver disease (HP:0006706)2.81290181
53Abnormal rod and cone electroretinograms (HP:0008323)2.79809811
54Chronic hepatic failure (HP:0100626)2.78768659
55Decreased central vision (HP:0007663)2.78272877
56Abnormal hand bone ossification (HP:0010660)2.75805543
57Mild short stature (HP:0003502)2.74869925
58Abnormal ossification of hand bones (HP:0005921)2.74590426
59Abnormal drinking behavior (HP:0030082)2.73510283
60Polydipsia (HP:0001959)2.73510283
61Platyspondyly (HP:0000926)2.73104944
62Lumbar hyperlordosis (HP:0002938)2.72464345
63Beaking of vertebral bodies (HP:0004568)2.69402144
64Type II lissencephaly (HP:0007260)2.67756553
65Coxa vara (HP:0002812)2.67663752
66Barrel-shaped chest (HP:0001552)2.66702001
67Vertebral clefting (HP:0008428)2.65871788
68Hypothermia (HP:0002045)2.65332234
69Keratoconus (HP:0000563)2.65286999
70Increased corneal curvature (HP:0100692)2.65286999
71Limited elbow extension (HP:0001377)2.64559091
72Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.64177354
73Abnormality of alanine metabolism (HP:0010916)2.64177354
74Hyperalaninemia (HP:0003348)2.64177354
75Thoracolumbar scoliosis (HP:0002944)2.64144851
76Pendular nystagmus (HP:0012043)2.60530322
77Aplasia/hypoplasia of the femur (HP:0005613)2.60468205
78Abnormality of the pubic bones (HP:0003172)2.58516172
79Metaphyseal dysplasia (HP:0100255)2.57777897
80Waddling gait (HP:0002515)2.57658893
81Cervical subluxation (HP:0003308)2.55581771
82Bile duct proliferation (HP:0001408)2.52697459
83Abnormal biliary tract physiology (HP:0012439)2.52697459
84Hematochezia (HP:0002573)2.52356931
85Tubular atrophy (HP:0000092)2.51715489
86Polycythemia (HP:0001901)2.48675264
87Large for gestational age (HP:0001520)2.48154822
88Sclerocornea (HP:0000647)2.46515051
89Hypoplasia of the capital femoral epiphysis (HP:0003090)2.44009902
90Limited hip movement (HP:0008800)2.41772197
91Renal cortical cysts (HP:0000803)2.41481546
92Spontaneous hematomas (HP:0007420)2.38811313
93Gait imbalance (HP:0002141)2.36416764
94Abnormality of the lumbar spine (HP:0100712)2.35342875
95Decreased circulating renin level (HP:0003351)2.34040610
96Congenital sensorineural hearing impairment (HP:0008527)2.33397962
97Furrowed tongue (HP:0000221)2.31450899
98Congenital primary aphakia (HP:0007707)2.29479385
99Absent/shortened dynein arms (HP:0200106)2.28757857
100Dynein arm defect of respiratory motile cilia (HP:0012255)2.28757857
101Decreased electroretinogram (ERG) amplitude (HP:0000654)2.27241904
102Inability to walk (HP:0002540)2.26666114
103Polyuria (HP:0000103)2.22900740
104Stillbirth (HP:0003826)2.22606697
105Aplasia/Hypoplasia of the tongue (HP:0010295)2.21831884
106Abnormality of the proximal phalanges of the hand (HP:0009834)2.20599839
107Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.20317671
108Gastrointestinal stroma tumor (HP:0100723)2.20302270
109Congenital hepatic fibrosis (HP:0002612)2.19478170
110Hemiparesis (HP:0001269)2.17937292
111Carpal bone hypoplasia (HP:0001498)2.17793126
112Exostoses (HP:0100777)2.16943014
113Hypoplasia of the fovea (HP:0007750)2.15366468
114Aplasia/Hypoplasia of the fovea (HP:0008060)2.15366468
115Male pseudohermaphroditism (HP:0000037)2.15149920
116Fair hair (HP:0002286)2.14283325
117Abnormality of macular pigmentation (HP:0008002)2.12844425
118Nephrogenic diabetes insipidus (HP:0009806)2.10419251
119Absent frontal sinuses (HP:0002688)2.10328167
120Abnormality of the phalanges of the 2nd finger (HP:0009541)2.08769896
121Anencephaly (HP:0002323)2.08554104
122Congenital, generalized hypertrichosis (HP:0004540)2.08416038
123Chorioretinal atrophy (HP:0000533)2.07338438
124Hip contracture (HP:0003273)2.06753713
125Abnormality of the vitreous humor (HP:0004327)2.06712899
126Ketosis (HP:0001946)2.06539941
127Febrile seizures (HP:0002373)2.06144881
128Ulnar bowing (HP:0003031)2.05046476
129Abnormality of incisor morphology (HP:0011063)2.04945684
130Aplasia/Hypoplasia of the tibia (HP:0005772)2.04755976
131Clumsiness (HP:0002312)2.02873142
132Cerebellar dysplasia (HP:0007033)2.02203772
133Abnormal cartilage morphology (HP:0002763)2.00238340
134Genital tract atresia (HP:0001827)1.99266821
135Ketoacidosis (HP:0001993)1.98292395
136Abnormal ciliary motility (HP:0012262)1.97009046
137Progressive inability to walk (HP:0002505)1.96533829
138Abnormal respiratory epithelium morphology (HP:0012253)1.95743348
139Abnormal respiratory motile cilium morphology (HP:0005938)1.95743348
140Thyroiditis (HP:0100646)1.95625140
141Bony spicule pigmentary retinopathy (HP:0007737)1.95284444
142Lissencephaly (HP:0001339)1.95265965
143Long clavicles (HP:0000890)1.95025192
144Retinal dysplasia (HP:0007973)1.94973850
145Thin ribs (HP:0000883)1.93677039
146Intrahepatic cholestasis (HP:0001406)1.92634568
147Xanthomatosis (HP:0000991)1.92101299
148Hypoplasia of the odontoid process (HP:0003311)1.92021151
149Nonimmune hydrops fetalis (HP:0001790)1.91887348
150Abnormal urine output (HP:0012590)1.90143433
151Enlarged epiphyses (HP:0010580)1.89806119
152Hyperglycinuria (HP:0003108)1.89108422
153Widely spaced teeth (HP:0000687)1.88853854
154Joint stiffness (HP:0001387)1.88520447
155Stomatitis (HP:0010280)1.88482697
156Agammaglobulinemia (HP:0004432)1.87182973
157Absent rod-and cone-mediated responses on ERG (HP:0007688)1.87138894
158Absent speech (HP:0001344)1.85945728
159Visceral angiomatosis (HP:0100761)1.85898888
160Vaginal atresia (HP:0000148)1.85040908
161Severe visual impairment (HP:0001141)1.83866899
162Increased CSF lactate (HP:0002490)1.83436369
163Spinal cord compression (HP:0002176)1.82847580
164Ectopia lentis (HP:0001083)1.82054255
165Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.81906294
166Vertebral hypoplasia (HP:0008417)1.81906294
167Hemangiomatosis (HP:0007461)1.81687571
168Glossoptosis (HP:0000162)1.80611438
169Broad-based gait (HP:0002136)1.80153309
170Pachygyria (HP:0001302)1.79274913
171Mitochondrial inheritance (HP:0001427)1.79175828
172Acute necrotizing encephalopathy (HP:0006965)1.78714794
173Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.78589705
174Methylmalonic acidemia (HP:0002912)1.77961387
175Progressive macrocephaly (HP:0004481)1.77941344
176Abnormality of the fovea (HP:0000493)1.77120215
177Hypomagnesemia (HP:0002917)1.76362523
178Vascular calcification (HP:0004934)1.75889887
179Acute encephalopathy (HP:0006846)1.75757258
180Mitral stenosis (HP:0001718)1.75459930
181Esophageal varix (HP:0002040)1.75356173
182Radial bowing (HP:0002986)1.75134194
183Abnormality of the nasal mucosa (HP:0000433)1.75109067
184Abnormality of renal excretion (HP:0011036)1.74486003
185Methylmalonic aciduria (HP:0012120)1.73409745
186Complement deficiency (HP:0004431)1.72769100
187Intestinal atresia (HP:0011100)1.72756266
188Abnormality of the 2nd finger (HP:0004100)1.72667269
189Mesomelia (HP:0003027)1.71873812
1903-Methylglutaconic aciduria (HP:0003535)1.71828189
191Protruding tongue (HP:0010808)1.71760485
192Abnormality of the pons (HP:0007361)1.71696950
193Interstitial pulmonary disease (HP:0006530)1.71284790
194Joint hemorrhage (HP:0005261)1.69323114
195Thyroid-stimulating hormone excess (HP:0002925)1.68436354
196Stomach cancer (HP:0012126)1.68076977
197Relative macrocephaly (HP:0004482)1.67139342
198Ulnar deviation of the wrist (HP:0003049)1.65511080
199Cardiovascular calcification (HP:0011915)1.65158106

Predicted kinase interactions (KEA)

RankGene SetZ-score
1KDR6.59115141
2TIE16.04603672
3MAP4K13.55159851
4ERN13.36982696
5TGFBR23.13315935
6ADRBK23.10116936
7BMPR1B3.04493229
8MAP3K32.95899177
9ACVR1B2.77711704
10MAP4K22.68276573
11INSRR2.62028715
12STK242.60305925
13DDR22.52912421
14TAOK32.50643063
15PINK12.44309230
16PRKG22.33471924
17TRIB32.21681543
18WNK32.18701149
19GRK12.13402966
20WNK41.99223056
21JAK11.98590107
22CASK1.94079272
23ZAK1.85997697
24FGFR41.82048298
25SIK11.79454504
26MAPK131.74460297
27TXK1.73109635
28LATS11.62546883
29CSF1R1.61831006
30TGFBR11.61774453
31LRRK21.59281034
32OXSR11.55663686
33STK391.50301082
34CSK1.43112667
35TNIK1.42980159
36MAPK121.37997113
37TLK11.37345739
38NTRK31.36010824
39MAP3K41.35142484
40MST41.31630665
41ADRBK11.25583731
42EPHB11.25043276
43BLK1.22819093
44STK38L1.22338524
45NME11.21511363
46NUAK11.20565904
47PTK2B1.19026903
48MAP2K31.17143455
49GRK61.14471175
50PRKCE1.13675766
51PTK61.13120119
52FGFR31.10623472
53PAK31.10496774
54STK101.07597652
55MAPK71.07472828
56TRIM281.03591854
57PRKCH1.03333323
58RIPK11.00689204
59PNCK0.98497144
60AKT30.97076246
61BRSK20.96516134
62MAPKAPK30.96108820
63PKN20.93948876
64MKNK20.92027720
65PRKCG0.91869091
66TBK10.91479127
67TYK20.90528672
68EPHB20.89625712
69MAP3K100.89176020
70JAK30.87640810
71PHKG20.86935921
72PHKG10.86935921
73STK30.86911558
74DAPK20.86560319
75DYRK20.84272304
76SYK0.82765059
77MAP3K140.81510640
78TNK20.78003840
79MAP2K60.76064231
80MARK30.73967040
81CAMKK20.72956364
82PRKCQ0.71839431
83TAF10.68769082
84FES0.68670153
85LYN0.68067718
86PKN10.67731531
87CSNK1G10.66690872
88FER0.66625639
89TEC0.66257017
90CSNK1G30.61351065
91VRK10.60678849
92CSNK1G20.60142256
93EPHA30.59992165
94PIK3CA0.59154577
95GSK3A0.59065901
96KIT0.58517147
97IRAK30.56875109
98TTN0.56324525
99BTK0.56148799
100JAK20.55861526
101IRAK10.54897653
102MAPK40.54881757
103EGFR0.54724689
104CAMK2A0.53944707
105HCK0.53921183
106CSNK1A10.53812869
107MAP2K70.53509054
108EIF2AK30.53375753
109MAPK150.53369108
110MAP2K10.51463108
111MAPKAPK50.51125470
112PRKACA0.50543828
113ROCK10.50095960
114NLK0.49389206
115FGFR20.49377627
116MARK10.49374638
117CAMK10.49318837
118FGR0.48640446
119TAOK10.48512106
120PRKG10.47974378
121MUSK0.47833290
122RIPK40.46327692
123PRKD10.45585511
124SIK20.44870851
125PDK10.44759575
126EPHA40.44490622
127ABL10.44263444
128PRKCA0.44251899
129SIK30.43007270
130IGF1R0.42881276
131PLK40.42359161
132BMPR20.41040161
133FRK0.41027203
134PRKCI0.41006653
135STK110.40109842
136GRK50.39870650
137PLK20.38673374
138RPS6KA50.38524685
139BCR0.37971538
140BCKDK0.37925900
141ERBB30.37534810
142PIK3CG0.36907573
143IKBKB0.36896333
144CSNK1D0.36882563
145PDPK10.36681298
146NTRK20.36655597
147CHUK0.35368690
148PRKAA10.34898838
149SGK30.34249605
150MATK0.32677248
151ZAP700.31807244
152INSR0.31746325
153CAMK1G0.31506531
154PRKAA20.31192091
155SGK20.30997678
156CSNK1A1L0.30773660
157ERBB20.30294064
158PRKCZ0.28892804
159SRC0.28769882
160DYRK1A0.28424490
161CAMK40.26118798
162PRKACG0.25674674
163IKBKE0.25372727
164MET0.24865282
165MAP3K70.24651112
166PIM10.24276449
167CDC42BPA0.24107732
168ITK0.23785227
169MELK0.23422369
170PRKCD0.22984483

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.30179662
2Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.25254516
3Complement and coagulation cascades_Homo sapiens_hsa046103.24685178
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.11146659
5Linoleic acid metabolism_Homo sapiens_hsa005912.98372047
6Nitrogen metabolism_Homo sapiens_hsa009102.79125905
7ECM-receptor interaction_Homo sapiens_hsa045122.77134585
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.73614779
9alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.67158363
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.55067492
11Arginine biosynthesis_Homo sapiens_hsa002202.50105910
12B cell receptor signaling pathway_Homo sapiens_hsa046622.49345491
13Phototransduction_Homo sapiens_hsa047442.40702805
14Maturity onset diabetes of the young_Homo sapiens_hsa049502.32814141
15Tryptophan metabolism_Homo sapiens_hsa003802.06039665
16Protein digestion and absorption_Homo sapiens_hsa049742.01300713
17Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.00772706
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.93241209
19Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.91666503
20Nicotine addiction_Homo sapiens_hsa050331.85259060
21Pentose and glucuronate interconversions_Homo sapiens_hsa000401.83708747
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.83264193
23Ether lipid metabolism_Homo sapiens_hsa005651.82560167
24Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.79256391
25Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.78106971
26Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.73270644
27PPAR signaling pathway_Homo sapiens_hsa033201.72224822
28Malaria_Homo sapiens_hsa051441.62299631
29Fatty acid degradation_Homo sapiens_hsa000711.62286682
30Primary immunodeficiency_Homo sapiens_hsa053401.61499022
31Arachidonic acid metabolism_Homo sapiens_hsa005901.55718233
32Focal adhesion_Homo sapiens_hsa045101.55317070
33Staphylococcus aureus infection_Homo sapiens_hsa051501.52866072
34Bile secretion_Homo sapiens_hsa049761.48588286
35Protein export_Homo sapiens_hsa030601.47939122
36Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.45388008
37Oxidative phosphorylation_Homo sapiens_hsa001901.44447386
38Caffeine metabolism_Homo sapiens_hsa002321.39653997
39Morphine addiction_Homo sapiens_hsa050321.32811212
40Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.26816467
41Taste transduction_Homo sapiens_hsa047421.26581440
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.26190788
43Selenocompound metabolism_Homo sapiens_hsa004501.24200764
44Serotonergic synapse_Homo sapiens_hsa047261.20538594
45Homologous recombination_Homo sapiens_hsa034401.16660684
46Hematopoietic cell lineage_Homo sapiens_hsa046401.16556521
47Starch and sucrose metabolism_Homo sapiens_hsa005001.16094690
48Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.14404665
49Chemical carcinogenesis_Homo sapiens_hsa052041.10697154
50Sulfur metabolism_Homo sapiens_hsa009201.10360570
51Collecting duct acid secretion_Homo sapiens_hsa049661.10318765
52Basal transcription factors_Homo sapiens_hsa030221.09694694
53beta-Alanine metabolism_Homo sapiens_hsa004101.09073518
54Insulin secretion_Homo sapiens_hsa049111.07820130
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.06983931
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.06875392
57Fatty acid metabolism_Homo sapiens_hsa012121.06652232
58Circadian entrainment_Homo sapiens_hsa047131.05358448
59GABAergic synapse_Homo sapiens_hsa047271.04954662
60African trypanosomiasis_Homo sapiens_hsa051431.01457750
61Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.99858405
62AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.99492511
63Regulation of autophagy_Homo sapiens_hsa041400.99107621
64Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.97942952
65Histidine metabolism_Homo sapiens_hsa003400.96982887
66Lysine degradation_Homo sapiens_hsa003100.96536140
67Parkinsons disease_Homo sapiens_hsa050120.94406691
68One carbon pool by folate_Homo sapiens_hsa006700.94023913
69Leukocyte transendothelial migration_Homo sapiens_hsa046700.92454919
70Glutamatergic synapse_Homo sapiens_hsa047240.91591744
71Phenylalanine metabolism_Homo sapiens_hsa003600.91334563
72Peroxisome_Homo sapiens_hsa041460.91306234
73Sphingolipid metabolism_Homo sapiens_hsa006000.91069376
74Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.90822720
75Insulin resistance_Homo sapiens_hsa049310.87453370
76Steroid hormone biosynthesis_Homo sapiens_hsa001400.85471931
77PI3K-Akt signaling pathway_Homo sapiens_hsa041510.85438707
78RNA polymerase_Homo sapiens_hsa030200.84078800
79Steroid biosynthesis_Homo sapiens_hsa001000.83585847
80Retinol metabolism_Homo sapiens_hsa008300.83014917
81Arginine and proline metabolism_Homo sapiens_hsa003300.81199401
82ABC transporters_Homo sapiens_hsa020100.80947292
83Butanoate metabolism_Homo sapiens_hsa006500.79622573
84Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.79250625
85Propanoate metabolism_Homo sapiens_hsa006400.79158979
86Platelet activation_Homo sapiens_hsa046110.78401414
87Fanconi anemia pathway_Homo sapiens_hsa034600.77003996
88Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.76400152
89NF-kappa B signaling pathway_Homo sapiens_hsa040640.73744608
90Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72307550
91Vitamin digestion and absorption_Homo sapiens_hsa049770.71980695
92Calcium signaling pathway_Homo sapiens_hsa040200.70032214
93Proteoglycans in cancer_Homo sapiens_hsa052050.69808827
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.69755579
95Osteoclast differentiation_Homo sapiens_hsa043800.69089871
96Long-term depression_Homo sapiens_hsa047300.67188168
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.66907924
98Vascular smooth muscle contraction_Homo sapiens_hsa042700.65091939
99Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.64950242
100Mineral absorption_Homo sapiens_hsa049780.61026506
101Intestinal immune network for IgA production_Homo sapiens_hsa046720.60597485
102Metabolic pathways_Homo sapiens_hsa011000.59553041
103Glycerophospholipid metabolism_Homo sapiens_hsa005640.59022273
104Tyrosine metabolism_Homo sapiens_hsa003500.58439170
105Adherens junction_Homo sapiens_hsa045200.56486713
106Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.55019111
107Ovarian steroidogenesis_Homo sapiens_hsa049130.53841392
108Huntingtons disease_Homo sapiens_hsa050160.53730746
109Rap1 signaling pathway_Homo sapiens_hsa040150.53104340
110Olfactory transduction_Homo sapiens_hsa047400.52782196
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51814992
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.51487585
1132-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.51032048
114Cardiac muscle contraction_Homo sapiens_hsa042600.50557954
115RNA degradation_Homo sapiens_hsa030180.50044144
116Cysteine and methionine metabolism_Homo sapiens_hsa002700.49424576
117Dorso-ventral axis formation_Homo sapiens_hsa043200.49362445
118Circadian rhythm_Homo sapiens_hsa047100.48721200
119Asthma_Homo sapiens_hsa053100.48242366
120cGMP-PKG signaling pathway_Homo sapiens_hsa040220.48081284
121Dopaminergic synapse_Homo sapiens_hsa047280.47970730
122Alzheimers disease_Homo sapiens_hsa050100.46651148
123VEGF signaling pathway_Homo sapiens_hsa043700.46616392
124Renin secretion_Homo sapiens_hsa049240.45572258
125Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.45514421
126Purine metabolism_Homo sapiens_hsa002300.45171271
127Cyanoamino acid metabolism_Homo sapiens_hsa004600.44458167
128Pyruvate metabolism_Homo sapiens_hsa006200.42968683
129Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.41882255
130TGF-beta signaling pathway_Homo sapiens_hsa043500.41851311
131Folate biosynthesis_Homo sapiens_hsa007900.41751836
132Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41597493
133Cocaine addiction_Homo sapiens_hsa050300.41254760
134Type I diabetes mellitus_Homo sapiens_hsa049400.39651185
135HIF-1 signaling pathway_Homo sapiens_hsa040660.39648213
136Fat digestion and absorption_Homo sapiens_hsa049750.38612796
137Drug metabolism - other enzymes_Homo sapiens_hsa009830.38411176
138Glucagon signaling pathway_Homo sapiens_hsa049220.37978768
139Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.35411253
140Aldosterone synthesis and secretion_Homo sapiens_hsa049250.35178459
141Sulfur relay system_Homo sapiens_hsa041220.34772921
142Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.31273042
143Toxoplasmosis_Homo sapiens_hsa051450.29317864
144Fatty acid biosynthesis_Homo sapiens_hsa000610.28387140
145Dilated cardiomyopathy_Homo sapiens_hsa054140.27642821
146Leishmaniasis_Homo sapiens_hsa051400.27488788
147Pertussis_Homo sapiens_hsa051330.26574906
148Chemokine signaling pathway_Homo sapiens_hsa040620.25831465
149Salivary secretion_Homo sapiens_hsa049700.25341000
150Small cell lung cancer_Homo sapiens_hsa052220.24972403
151Glycerolipid metabolism_Homo sapiens_hsa005610.24758896
152Thyroid hormone synthesis_Homo sapiens_hsa049180.24347682
153Hepatitis C_Homo sapiens_hsa051600.24185231
154Ras signaling pathway_Homo sapiens_hsa040140.23686486
155TNF signaling pathway_Homo sapiens_hsa046680.23468187
156Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.22893420
157Phagosome_Homo sapiens_hsa041450.22478070

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