ABCD2

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 superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1low-density lipoprotein particle clearance (GO:0034383)6.64222223
2triglyceride catabolic process (GO:0019433)6.08918356
3regulation of sequestering of triglyceride (GO:0010889)6.03975400
4positive T cell selection (GO:0043368)5.91912832
5neutral lipid catabolic process (GO:0046461)5.82729061
6acylglycerol catabolic process (GO:0046464)5.82729061
7negative T cell selection (GO:0043383)5.80068933
8negative regulation of cell killing (GO:0031342)5.79743801
9negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.79743801
10positive regulation of gamma-delta T cell activation (GO:0046645)5.68637370
11alpha-linolenic acid metabolic process (GO:0036109)5.50139145
12valine metabolic process (GO:0006573)5.32715545
13negative thymic T cell selection (GO:0045060)5.31363547
14regulation of B cell receptor signaling pathway (GO:0050855)5.23861301
15biotin metabolic process (GO:0006768)5.18698631
16positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.04995972
17antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.04316915
18brown fat cell differentiation (GO:0050873)4.98636076
19activated T cell proliferation (GO:0050798)4.97633079
20cellular response to interleukin-15 (GO:0071350)4.96493338
21fatty acid transmembrane transport (GO:1902001)4.83850705
22response to interleukin-15 (GO:0070672)4.82701624
23white fat cell differentiation (GO:0050872)4.69178024
24triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.67935051
25plasma lipoprotein particle clearance (GO:0034381)4.67467952
26positive thymic T cell selection (GO:0045059)4.61541382
27glycerolipid catabolic process (GO:0046503)4.38841951
28T cell selection (GO:0045058)4.36670331
29triglyceride biosynthetic process (GO:0019432)4.31911276
30regulation of triglyceride catabolic process (GO:0010896)4.29829477
31regulation of cholesterol storage (GO:0010885)4.29413605
32response to dietary excess (GO:0002021)4.26609228
33* fatty acid beta-oxidation (GO:0006635)4.25010341
34neutral lipid biosynthetic process (GO:0046460)4.21279364
35acylglycerol biosynthetic process (GO:0046463)4.21279364
36T cell migration (GO:0072678)4.20462102
37complement activation, alternative pathway (GO:0006957)4.19688508
38carnitine shuttle (GO:0006853)4.17127521
39negative regulation of macrophage derived foam cell differentiation (GO:0010745)4.15521540
40fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.11906728
41regulation of gamma-delta T cell differentiation (GO:0045586)4.10529803
42thymic T cell selection (GO:0045061)4.04999156
43triglyceride homeostasis (GO:0070328)4.03847114
44acylglycerol homeostasis (GO:0055090)4.03847114
45fatty acid homeostasis (GO:0055089)4.03652393
46erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.02358771
47L-phenylalanine catabolic process (GO:0006559)4.02358771
48* fatty acid oxidation (GO:0019395)3.99183940
49* lipid oxidation (GO:0034440)3.98427011
50triglyceride metabolic process (GO:0006641)3.98310732
51* positive regulation of fatty acid oxidation (GO:0046321)3.95537823
52interferon-gamma production (GO:0032609)3.94520609
53* positive regulation of fatty acid beta-oxidation (GO:0032000)3.92276108
54positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.92201955
55regulation of gamma-delta T cell activation (GO:0046643)3.89390461
56lipid storage (GO:0019915)3.88632314
57fatty-acyl-CoA biosynthetic process (GO:0046949)3.87383002
58sulfur amino acid catabolic process (GO:0000098)3.87293059
59acetyl-CoA metabolic process (GO:0006084)3.86354148
60branched-chain amino acid catabolic process (GO:0009083)3.85735539
61negative regulation of T cell mediated immunity (GO:0002710)3.84067582
62branched-chain amino acid metabolic process (GO:0009081)3.82989097
63* fatty acid catabolic process (GO:0009062)3.82782983
64thioester biosynthetic process (GO:0035384)3.79370406
65acyl-CoA biosynthetic process (GO:0071616)3.79370406
66acylglycerol metabolic process (GO:0006639)3.79129173
67fatty-acyl-CoA metabolic process (GO:0035337)3.75482521
68neutral lipid metabolic process (GO:0006638)3.74623190
69phospholipid homeostasis (GO:0055091)3.74537240
70L-phenylalanine metabolic process (GO:0006558)3.74315576
71erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.74315576
72* positive regulation of lipid catabolic process (GO:0050996)3.71549363
73neurotransmitter-gated ion channel clustering (GO:0072578)3.67889707
74alanine transport (GO:0032328)3.65502762
75long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.62325527
76negative regulation of lipase activity (GO:0060192)3.59838844
77positive regulation of tolerance induction (GO:0002645)3.58301897
78regulation of regulatory T cell differentiation (GO:0045589)3.57627854
79antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.53420560
80short-chain fatty acid metabolic process (GO:0046459)3.51164300
81long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.48626091
82regulation of T cell tolerance induction (GO:0002664)3.47726210
83* monocarboxylic acid catabolic process (GO:0072329)3.44828362
84protein-lipid complex remodeling (GO:0034368)3.44050480
85macromolecular complex remodeling (GO:0034367)3.44050480
86plasma lipoprotein particle remodeling (GO:0034369)3.44050480
872-oxoglutarate metabolic process (GO:0006103)3.43896696
88regulation of triglyceride metabolic process (GO:0090207)3.40986762
89negative regulation of lymphocyte mediated immunity (GO:0002707)3.39737931
90regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.37198303
91regulation of isotype switching to IgG isotypes (GO:0048302)3.36848440
92carnitine transmembrane transport (GO:1902603)3.36756890
93lipid particle organization (GO:0034389)3.34615516
94regulation of alpha-beta T cell proliferation (GO:0046640)3.34319139
95urea cycle (GO:0000050)3.31919093
96urea metabolic process (GO:0019627)3.31919093
97reverse cholesterol transport (GO:0043691)3.31817591
98oxaloacetate metabolic process (GO:0006107)3.31342069
99* positive regulation of fatty acid metabolic process (GO:0045923)3.30728269
100B cell receptor signaling pathway (GO:0050853)3.30035641
101amino-acid betaine metabolic process (GO:0006577)3.27101234
102linoleic acid metabolic process (GO:0043651)3.25990777
103regulation of triglyceride biosynthetic process (GO:0010866)3.25087070
104positive regulation of cholesterol transport (GO:0032376)3.23266230
105positive regulation of sterol transport (GO:0032373)3.23266230
106coenzyme A biosynthetic process (GO:0015937)3.23054787
107positive regulation of triglyceride metabolic process (GO:0090208)3.21455140
108regulation of tolerance induction (GO:0002643)3.20056364
109* regulation of fatty acid beta-oxidation (GO:0031998)3.18591042
110T cell receptor signaling pathway (GO:0050852)3.17967767
111high-density lipoprotein particle remodeling (GO:0034375)3.16948095
112antigen processing and presentation of endogenous antigen (GO:0019883)3.15846771
113regulation of B cell differentiation (GO:0045577)3.15082124
114positive regulation of B cell differentiation (GO:0045579)3.15072359
115antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.13117908
116carnitine metabolic process (GO:0009437)3.12637613
117amino-acid betaine transport (GO:0015838)3.11972106
118carnitine transport (GO:0015879)3.11972106
119* regulation of fatty acid oxidation (GO:0046320)3.11758834
120tolerance induction (GO:0002507)3.11539752
121regulation of cholesterol transport (GO:0032374)3.11111576
122regulation of sterol transport (GO:0032371)3.11111576
123aromatic amino acid family catabolic process (GO:0009074)3.10713918
124antigen receptor-mediated signaling pathway (GO:0050851)3.09160380
125low-density lipoprotein particle remodeling (GO:0034374)3.07646129
126nitrogen cycle metabolic process (GO:0071941)3.04719383
127positive regulation of cholesterol efflux (GO:0010875)3.04697975
128thioester metabolic process (GO:0035383)3.04498255
129acyl-CoA metabolic process (GO:0006637)3.04498255
130tricarboxylic acid metabolic process (GO:0072350)3.02999087
131leukocyte aggregation (GO:0070486)3.02847264
132regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.02375493
133regulation of natural killer cell mediated immunity (GO:0002715)3.02375493
134positive regulation of alpha-beta T cell proliferation (GO:0046641)3.01311241
135diacylglycerol metabolic process (GO:0046339)3.01016882
136regulation of macrophage derived foam cell differentiation (GO:0010743)2.99776052
137phospholipid efflux (GO:0033700)2.99597878
138plasma lipoprotein particle organization (GO:0071827)2.99079613
139negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)2.99028264
140glycerol metabolic process (GO:0006071)2.98478219
141lysine metabolic process (GO:0006553)2.95677321
142lysine catabolic process (GO:0006554)2.95677321
143positive regulation of lipid storage (GO:0010884)2.95530004
144regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.95314495
145negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.95042371
146regulation of protein activation cascade (GO:2000257)2.93711475
147cytidine deamination (GO:0009972)2.92857208
148cytidine metabolic process (GO:0046087)2.92857208
149cytidine catabolic process (GO:0006216)2.92857208
150positive regulation of natural killer cell mediated immunity (GO:0002717)2.89661080
151regulation of synaptic vesicle exocytosis (GO:2000300)2.82762797
152Peyers patch development (GO:0048541)2.82522134
153mucosal-associated lymphoid tissue development (GO:0048537)2.82522134
154positive regulation of granulocyte differentiation (GO:0030854)2.82362568
155cellular response to epinephrine stimulus (GO:0071872)2.81443709
156negative regulation of leukocyte mediated immunity (GO:0002704)2.78393958
157detection of calcium ion (GO:0005513)2.77808559
158ionotropic glutamate receptor signaling pathway (GO:0035235)2.76261338
159membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.75011548
160negative regulation of adaptive immune response (GO:0002820)2.71863938
161neurotransmitter uptake (GO:0001504)2.68467996
162microglial cell activation (GO:0001774)2.68215138
163regulation of interleukin-2 biosynthetic process (GO:0045076)2.67470900
164regulation of inositol phosphate biosynthetic process (GO:0010919)2.66867755
165pyrimidine ribonucleoside catabolic process (GO:0046133)2.66691018
166regulation of leukocyte mediated cytotoxicity (GO:0001910)2.66341176
167positive regulation of interleukin-4 production (GO:0032753)2.65826426
168positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.64573824
169regulation of T cell mediated cytotoxicity (GO:0001914)2.64062298
170negative regulation of neurotransmitter transport (GO:0051589)2.63170291
171phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.62846953
172positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.62134340
173regulation of protein kinase A signaling (GO:0010738)2.61912266
174T cell differentiation (GO:0030217)2.59658566
175positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.59058339
176regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.58649364
177regulation of cell killing (GO:0031341)2.58182571
178neuronal action potential propagation (GO:0019227)2.58161742
179negative regulation of B cell proliferation (GO:0030889)2.54893678
180regulation of voltage-gated calcium channel activity (GO:1901385)2.54351114
181negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.54130012
182regulation of T cell receptor signaling pathway (GO:0050856)2.53992238
183positive regulation of interleukin-2 production (GO:0032743)2.53306165
184positive regulation of cell killing (GO:0031343)2.53097099
185lymphocyte migration (GO:0072676)2.52761276
186alpha-beta T cell differentiation (GO:0046632)2.49964294
187synaptic vesicle maturation (GO:0016188)2.48165981
188Arp2/3 complex-mediated actin nucleation (GO:0034314)2.47698746
189type I interferon signaling pathway (GO:0060337)2.46137437
190cellular response to type I interferon (GO:0071357)2.46137437
191tyrosine phosphorylation of STAT protein (GO:0007260)2.45719835
192regulation of synaptic vesicle transport (GO:1902803)2.44632758
193T cell mediated immunity (GO:0002456)2.43948041
194response to type I interferon (GO:0034340)2.43175816
195mast cell activation (GO:0045576)2.38360222
196T cell costimulation (GO:0031295)2.38068410
197regulation of platelet aggregation (GO:0090330)2.37561498
198negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.36508087
199L-amino acid import (GO:0043092)2.35149280

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.87823822
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.80444977
3* RXR_22158963_ChIP-Seq_LIVER_Mouse4.78713752
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.35197051
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.28877209
6* LXR_22158963_ChIP-Seq_LIVER_Mouse4.03571123
7PPARA_22158963_ChIP-Seq_LIVER_Mouse3.92908871
8FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.34723065
9RUNX_20019798_ChIP-Seq_JUKART_Human2.99203156
10IRF8_22096565_ChIP-ChIP_GC-B_Human2.97345933
11CLOCK_20551151_ChIP-Seq_293T_Human2.95485267
12BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.86223789
13* EGR1_23403033_ChIP-Seq_LIVER_Mouse2.78503512
14* NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.69807129
15CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.33640380
16STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.27423498
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.15768135
18FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.05009094
19PPARG_19300518_ChIP-PET_3T3-L1_Mouse10.4303255
20* MYB_26560356_Chip-Seq_TH2_Human1.88988938
21* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.83530484
22CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.82201904
23IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.78731411
24IGF1R_20145208_ChIP-Seq_DFB_Human1.73021827
25GBX2_23144817_ChIP-Seq_PC3_Human1.72119762
26CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.72058793
27IRF8_21731497_ChIP-ChIP_J774_Mouse1.71985148
28* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.67139842
29GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60151258
30FLI1_27457419_Chip-Seq_LIVER_Mouse1.59013463
31TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.53199775
32VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.52843866
33ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.45056158
34* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43595749
35RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.43352545
36GATA1_22025678_ChIP-Seq_K562_Human1.43309546
37* GATA3_27048872_Chip-Seq_THYMUS_Human1.42840819
38MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.39862687
39* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.39419457
40FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.39187534
41PRDM14_20953172_ChIP-Seq_ESCs_Human1.38425252
42SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37304535
43FOXA2_19822575_ChIP-Seq_HepG2_Human1.35254844
44CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.34506464
45MYB_26560356_Chip-Seq_TH1_Human1.34404052
46HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.32593065
47IRF8_27001747_Chip-Seq_BMDM_Mouse1.31192597
48STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.30959179
49DROSHA_22980978_ChIP-Seq_HELA_Human1.29829482
50* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.28416239
51Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.27177077
52* GATA3_26560356_Chip-Seq_TH2_Human1.26610149
53NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.24463901
54POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.23966339
55TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23966339
56ER_23166858_ChIP-Seq_MCF-7_Human1.23824248
57SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.23302788
58NANOG_18555785_Chip-Seq_ESCs_Mouse1.22861785
59RNF2_18974828_ChIP-Seq_MESCs_Mouse1.22556039
60EZH2_18974828_ChIP-Seq_MESCs_Mouse1.22556039
61TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.21496455
62* REST_21632747_ChIP-Seq_MESCs_Mouse1.21296934
63SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.20822755
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.20573455
65SCL_19346495_ChIP-Seq_HPC-7_Human1.20236549
66THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.20201862
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20007226
68PCGF2_27294783_Chip-Seq_ESCs_Mouse1.18612413
69* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.17878069
70* STAT3_23295773_ChIP-Seq_U87_Human1.16137352
71SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.16072881
72NFE2_27457419_Chip-Seq_LIVER_Mouse1.13668569
73TCF4_23295773_ChIP-Seq_U87_Human1.13307827
74PCGF2_27294783_Chip-Seq_NPCs_Mouse1.13175396
75TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12370882
76P53_22387025_ChIP-Seq_ESCs_Mouse1.11869578
77TP53_16413492_ChIP-PET_HCT116_Human1.10722175
78CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.08997968
79EZH2_27294783_Chip-Seq_NPCs_Mouse1.08925909
80MTF2_20144788_ChIP-Seq_MESCs_Mouse1.07261155
81OCT4_21477851_ChIP-Seq_ESCs_Mouse1.07094114
82EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05924908
83BCAT_22108803_ChIP-Seq_LS180_Human1.05356258
84CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.04256970
85CMYC_18555785_Chip-Seq_ESCs_Mouse1.04239579
86EZH2_22144423_ChIP-Seq_EOC_Human1.03822087
87SMRT_27268052_Chip-Seq_Bcells_Human1.03798942
88ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.03770376
89NRF2_20460467_ChIP-Seq_MEFs_Mouse1.03714595
90NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.03714595
91MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02491260
92SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.01639033
93TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.01095658
94SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.00757592
95* KDM2B_26808549_Chip-Seq_REH_Human1.00526160
96SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.99724780
97MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.98657976
98GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.98553049
99E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.98284650
100TAF15_26573619_Chip-Seq_HEK293_Human0.97841278
101TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97358112
102* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.97188795
103E2F1_18555785_Chip-Seq_ESCs_Mouse0.96623782
104STAT4_19710469_ChIP-ChIP_TH1__Mouse0.96531695
105TRIM28_21343339_ChIP-Seq_HEK293_Human0.96300658
106CRX_20693478_ChIP-Seq_RETINA_Mouse0.95172095
107* SMAD3_21741376_ChIP-Seq_EPCs_Human0.93325384
108SPI1_23127762_ChIP-Seq_K562_Human0.92686200
109FLI1_21867929_ChIP-Seq_TH2_Mouse0.92639274
110EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.92038435
111ESR1_20079471_ChIP-ChIP_T-47D_Human0.91396676
112SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.90868038
113IKZF1_21737484_ChIP-ChIP_HCT116_Human0.90816348
114PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.89883871
115SUZ12_18555785_Chip-Seq_ESCs_Mouse0.89522715
116EED_16625203_ChIP-ChIP_MESCs_Mouse0.89394409
117PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.89123696
118ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.88453203
119NR3C1_23031785_ChIP-Seq_PC12_Mouse0.88344040
120AR_25329375_ChIP-Seq_VCAP_Human0.87931745
121HTT_18923047_ChIP-ChIP_STHdh_Human0.87056671
122RXR_22108803_ChIP-Seq_LS180_Human0.86194391
123PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.85275610
124JARID2_20075857_ChIP-Seq_MESCs_Mouse0.84968110
125EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.83856403
126HNF4A_19822575_ChIP-Seq_HepG2_Human0.83707986
127RARG_19884340_ChIP-ChIP_MEFs_Mouse0.82891060
128SMAD_19615063_ChIP-ChIP_OVARY_Human0.82200076
129UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.81576254
130TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.81378065
131PPAR_26484153_Chip-Seq_NCI-H1993_Human0.81267158
132* VDR_24787735_ChIP-Seq_THP-1_Human0.81200543
133SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81066062
134ELK4_26923725_Chip-Seq_MESODERM_Mouse0.80152152
135STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.78345830
136SOX2_21211035_ChIP-Seq_LN229_Gbm0.76078543
137ERG_21242973_ChIP-ChIP_JURKAT_Human0.75864009
138AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.74792634
139CBP_20019798_ChIP-Seq_JUKART_Human0.73243392
140IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.73243392
141GATA1_19941826_ChIP-Seq_K562_Human0.73184442
142CTNNB1_20460455_ChIP-Seq_HCT116_Human0.72367275
143ZNF217_24962896_ChIP-Seq_MCF-7_Human0.71978146
144TBX20_22080862_ChIP-Seq_HEART_Mouse0.71858123
145TBX20_22328084_ChIP-Seq_HEART_Mouse0.71858123
146SMAD4_21799915_ChIP-Seq_A2780_Human0.71834849
147AR_21572438_ChIP-Seq_LNCaP_Human0.71832242
148* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.71754316
149AHR_22903824_ChIP-Seq_MCF-7_Human0.71056950
150NR3C1_21868756_ChIP-Seq_MCF10A_Human0.70234684
151CTBP2_25329375_ChIP-Seq_LNCAP_Human0.68796488
152GATA2_21666600_ChIP-Seq_HMVEC_Human0.67051255
153JARID2_20064375_ChIP-Seq_MESCs_Mouse0.66625407
154SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.66289004
155CJUN_26792858_Chip-Seq_BT549_Human0.65286975
156ARNT_22903824_ChIP-Seq_MCF-7_Human0.65281820
157AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.65207247
158SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.64659529
159* SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.64000720
160* CTBP1_25329375_ChIP-Seq_LNCAP_Human0.63816177
161RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.63647912
162* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.63042397
163IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.62874026
164TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.62743482
165* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.62638722
166P300_19829295_ChIP-Seq_ESCs_Human0.62294166
167REST_18959480_ChIP-ChIP_MESCs_Mouse0.61905169

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005670_abnormal_white_adipose6.74272091
2MP0002139_abnormal_hepatobiliary_system4.37262250
3MP0004130_abnormal_muscle_cell4.20985971
4MP0005666_abnormal_adipose_tissue4.14892782
5MP0005360_urolithiasis3.98998146
6MP0010329_abnormal_lipoprotein_level3.98497132
7MP0005365_abnormal_bile_salt3.93402120
8MP0003763_abnormal_thymus_physiology3.43282700
9MP0005671_abnormal_response_to3.40954934
10MP0004185_abnormal_adipocyte_glucose3.34632620
11MP0003191_abnormal_cellular_cholesterol3.12719085
12MP0002876_abnormal_thyroid_physiology3.06741256
13MP0005375_adipose_tissue_phenotype3.03526296
14MP0002837_dystrophic_cardiac_calcinosis2.88299334
15MP0002971_abnormal_brown_adipose2.78268104
16MP0003303_peritoneal_inflammation2.53170537
17MP0005085_abnormal_gallbladder_physiolo2.50887756
18MP0000013_abnormal_adipose_tissue2.49125618
19* MP0002118_abnormal_lipid_homeostasis2.44494153
20MP0003787_abnormal_imprinting2.43492137
21MP0001800_abnormal_humoral_immune2.41116525
22MP0008875_abnormal_xenobiotic_pharmacok2.39439210
23MP0009115_abnormal_fat_cell2.39361985
24MP0001835_abnormal_antigen_presentation2.37521011
25MP0001968_abnormal_touch/_nociception2.36085939
26MP0003880_abnormal_central_pattern2.33643463
27MP0005334_abnormal_fat_pad2.30872898
28MP0008438_abnormal_cutaneous_collagen2.27022329
29MP0003690_abnormal_glial_cell2.17978581
30MP0002736_abnormal_nociception_after2.16268179
31MP0000003_abnormal_adipose_tissue2.04541568
32MP0005000_abnormal_immune_tolerance1.94612264
33MP0005535_abnormal_body_temperature1.94125915
34MP0002420_abnormal_adaptive_immunity1.89747805
35MP0009745_abnormal_behavioral_response1.87546424
36MP0003635_abnormal_synaptic_transmissio1.87058391
37MP0004859_abnormal_synaptic_plasticity1.85475575
38MP0001819_abnormal_immune_cell1.83664865
39MP0000609_abnormal_liver_physiology1.83151533
40MP0003868_abnormal_feces_composition1.83141657
41MP0002723_abnormal_immune_serum1.80509393
42MP0008569_lethality_at_weaning1.79664066
43MP0002970_abnormal_white_adipose1.72939337
44MP0001661_extended_life_span1.72671027
45MP0009333_abnormal_splenocyte_physiolog1.69578709
46MP0003045_fibrosis1.67926669
47MP0001790_abnormal_immune_system1.66412329
48MP0005387_immune_system_phenotype1.66412329
49MP0002064_seizures1.65280035
50MP0005332_abnormal_amino_acid1.64502090
51MP0009785_altered_susceptibility_to1.64275962
52MP0000703_abnormal_thymus_morphology1.63138597
53MP0000465_gastrointestinal_hemorrhage1.61673407
54MP0005025_abnormal_response_to1.61616671
55MP0002452_abnormal_antigen_presenting1.60007231
56MP0003252_abnormal_bile_duct1.59317334
57MP0002063_abnormal_learning/memory/cond1.54982207
58MP0002398_abnormal_bone_marrow1.54432745
59MP0005448_abnormal_energy_balance1.51146223
60MP0000685_abnormal_immune_system1.50652046
61MP0001486_abnormal_startle_reflex1.48407264
62MP0005584_abnormal_enzyme/coenzyme_acti1.47525113
63* MP0000716_abnormal_immune_system1.45995726
64MP0001764_abnormal_homeostasis1.43291742
65MP0009840_abnormal_foam_cell1.42236072
66MP0001501_abnormal_sleep_pattern1.41357455
67MP0003186_abnormal_redox_activity1.38535763
68MP0001986_abnormal_taste_sensitivity1.37810513
69MP0002254_reproductive_system_inflammat1.36376918
70MP0003866_abnormal_defecation1.35898222
71MP0003959_abnormal_lean_body1.35552389
72MP0002078_abnormal_glucose_homeostasis1.33892839
73MP0008877_abnormal_DNA_methylation1.32237815
74MP0004381_abnormal_hair_follicle1.31165967
75MP0005319_abnormal_enzyme/_coenzyme1.31062437
76MP0005423_abnormal_somatic_nervous1.30501023
77MP0002419_abnormal_innate_immunity1.30171944
78MP0003705_abnormal_hypodermis_morpholog1.29128011
79MP0005275_abnormal_skin_tensile1.26183856
80MP0002722_abnormal_immune_system1.24759340
81MP0000689_abnormal_spleen_morphology1.24109267
82* MP0002272_abnormal_nervous_system1.22098332
83MP0003436_decreased_susceptibility_to1.21676592
84MP0009046_muscle_twitch1.21302189
85MP0002067_abnormal_sensory_capabilities1.21153575
86MP0003724_increased_susceptibility_to1.16080734
87MP0009780_abnormal_chondrocyte_physiolo1.15948370
88MP0002405_respiratory_system_inflammati1.15502874
89MP0000604_amyloidosis1.14090795
90MP0005452_abnormal_adipose_tissue1.14029784
91MP0002909_abnormal_adrenal_gland1.11932264
92MP0002572_abnormal_emotion/affect_behav1.09546770
93MP0004924_abnormal_behavior1.08459170
94MP0005386_behavior/neurological_phenoty1.08459170
95MP0005310_abnormal_salivary_gland1.05869611
96MP0000920_abnormal_myelination1.02681581
97MP0003806_abnormal_nucleotide_metabolis1.01630327
98MP0004019_abnormal_vitamin_homeostasis0.98121449
99MP0005075_abnormal_melanosome_morpholog0.98076748
100MP0002090_abnormal_vision0.96929303
101MP0001666_abnormal_nutrient_absorption0.96762733
102MP0003011_delayed_dark_adaptation0.96076004
103MP0002733_abnormal_thermal_nociception0.95099684
104MP0003075_altered_response_to0.94578086
105MP0001970_abnormal_pain_threshold0.92853271
106MP0005174_abnormal_tail_pigmentation0.92582049
107* MP0002429_abnormal_blood_cell0.91354183
108MP0005058_abnormal_lysosome_morphology0.90527429
109MP0005645_abnormal_hypothalamus_physiol0.90352627
110MP0004134_abnormal_chest_morphology0.88997306
111MP0001881_abnormal_mammary_gland0.86959066
112MP0006036_abnormal_mitochondrial_physio0.86122236
113MP0002009_preneoplasia0.83583722
114MP0001845_abnormal_inflammatory_respons0.82319522
115MP0003329_amyloid_beta_deposits0.82019575
116MP0009763_increased_sensitivity_to0.81879545
117MP0000343_altered_response_to0.81312958
118MP0003953_abnormal_hormone_level0.80955220
119MP0002638_abnormal_pupillary_reflex0.80543349
120MP0000015_abnormal_ear_pigmentation0.80399009
121MP0002006_tumorigenesis0.79237832
122MP0001440_abnormal_grooming_behavior0.79120389
123MP0004484_altered_response_of0.78120992
124MP0001984_abnormal_olfaction0.77768644
125MP0005164_abnormal_response_to0.77345589
126MP0009643_abnormal_urine_homeostasis0.75625496
127MP0004043_abnormal_pH_regulation0.75066852
128* MP0003631_nervous_system_phenotype0.74182008
129MP0008961_abnormal_basal_metabolism0.73766595
130MP0004742_abnormal_vestibular_system0.73410309
131MP0004885_abnormal_endolymph0.73388089
132MP0005595_abnormal_vascular_smooth0.72395413
133MP0002133_abnormal_respiratory_system0.72359848
134MP0005388_respiratory_system_phenotype0.72359848
135MP0009764_decreased_sensitivity_to0.72130925
136MP0004147_increased_porphyrin_level0.71986200
137MP0005647_abnormal_sex_gland0.71970170
138MP0002277_abnormal_respiratory_mucosa0.70887706
139MP0002095_abnormal_skin_pigmentation0.70805103
140MP0004270_analgesia0.70737112
141MP0001851_eye_inflammation0.70576804
142MP0002332_abnormal_exercise_endurance0.68067143
143MP0005379_endocrine/exocrine_gland_phen0.67643025
144MP0005620_abnormal_muscle_contractility0.65605644
145MP0000598_abnormal_liver_morphology0.64927750
146MP0003195_calcinosis0.64266542
147MP0008872_abnormal_physiological_respon0.63165912
148MP0009697_abnormal_copulation0.63098372
149MP0001177_atelectasis0.62987347
150MP0009642_abnormal_blood_homeostasis0.61693595
151MP0001756_abnormal_urination0.60859098
152MP0008874_decreased_physiological_sensi0.60736817
153MP0002069_abnormal_eating/drinking_beha0.60525872
154MP0000230_abnormal_systemic_arterial0.60100710
155MP0005083_abnormal_biliary_tract0.59363801
156MP0004215_abnormal_myocardial_fiber0.59329786
157MP0003656_abnormal_erythrocyte_physiolo0.59149712
158MP0005167_abnormal_blood-brain_barrier0.58943169
159MP0008775_abnormal_heart_ventricle0.58260405
160MP0005376_homeostasis/metabolism_phenot0.57330163
161MP0003646_muscle_fatigue0.56376222
162MP0004883_abnormal_blood_vessel0.56286557
163MP0004782_abnormal_surfactant_physiolog0.54648834
164* MP0003633_abnormal_nervous_system0.54603054
165MP0002166_altered_tumor_susceptibility0.54212471
166MP0003172_abnormal_lysosome_physiology0.52225674
167MP0003948_abnormal_gas_homeostasis0.52206194
168MP0002168_other_aberrant_phenotype0.51729981
169MP0000249_abnormal_blood_vessel0.51525318
170MP0006276_abnormal_autonomic_nervous0.50891463
171MP0009672_abnormal_birth_weight0.50813924
172MP0006138_congestive_heart_failure0.50652033
173MP0000569_abnormal_digit_pigmentation0.50491619

Predicted human phenotypes

RankGene SetZ-score
1Oligomenorrhea (HP:0000876)6.04476007
2T lymphocytopenia (HP:0005403)5.83649403
3Hyperglycinuria (HP:0003108)5.43811781
4Abnormality of T cell number (HP:0011839)5.43103124
5Complement deficiency (HP:0004431)4.94658033
6Hyperlipoproteinemia (HP:0010980)4.85721135
7Hemiplegia (HP:0002301)4.83552469
8Acanthosis nigricans (HP:0000956)4.82716061
9Abnormality of glycine metabolism (HP:0010895)4.80943709
10Abnormality of serine family amino acid metabolism (HP:0010894)4.80943709
11Hypertriglyceridemia (HP:0002155)4.80451101
12Hypoalphalipoproteinemia (HP:0003233)4.66633665
13Xanthomatosis (HP:0000991)4.58901849
14Autoimmune hemolytic anemia (HP:0001890)4.32501077
15Epidermoid cyst (HP:0200040)4.21959029
16Recurrent bronchitis (HP:0002837)4.18163427
17Deep venous thrombosis (HP:0002625)4.16671692
18Ketosis (HP:0001946)4.13960082
19Hyperammonemia (HP:0001987)4.02313752
20Hypoglycemic coma (HP:0001325)3.96420269
21Hyperglycinemia (HP:0002154)3.89542131
22Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.88190340
23Abnormality of fatty-acid metabolism (HP:0004359)3.83230752
24Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.76086365
25Focal motor seizures (HP:0011153)3.69139816
26Hypolipoproteinemia (HP:0010981)3.67591321
27Ketoacidosis (HP:0001993)3.62156019
28Abnormality of complement system (HP:0005339)3.53603105
29IgG deficiency (HP:0004315)3.49986757
30Stomach cancer (HP:0012126)3.49250178
31Hypercholesterolemia (HP:0003124)3.43902260
32Severe combined immunodeficiency (HP:0004430)3.43814322
33Abnormality of aromatic amino acid family metabolism (HP:0004338)3.40312544
34Myoglobinuria (HP:0002913)3.39570243
35Abnormality of T cells (HP:0002843)3.37827689
36Elevated erythrocyte sedimentation rate (HP:0003565)3.34908922
37Pigmentary retinal degeneration (HP:0001146)3.27001313
38Thyroiditis (HP:0100646)3.25352790
39Prolonged partial thromboplastin time (HP:0003645)3.24039729
40Eczematoid dermatitis (HP:0000976)3.21609300
41Insulin-resistant diabetes mellitus (HP:0000831)3.14360506
42Myocardial infarction (HP:0001658)3.13421803
43Abnormality of proline metabolism (HP:0010907)3.12665592
44Hydroxyprolinuria (HP:0003080)3.12665592
45Systemic lupus erythematosus (HP:0002725)3.11177881
46Long foot (HP:0001833)3.09704710
47Abnormal delayed hypersensitivity skin test (HP:0002963)3.07188250
48Recurrent fungal infections (HP:0002841)3.06560102
49Abnormality of eosinophils (HP:0001879)3.04387012
50Stomatitis (HP:0010280)2.99222940
51Hemorrhage of the eye (HP:0011885)2.96523384
52Joint hemorrhage (HP:0005261)2.96106477
53Abnormality of glutamine family amino acid metabolism (HP:0010902)2.95909763
54Recurrent bacterial skin infections (HP:0005406)2.89035847
55Progressive cerebellar ataxia (HP:0002073)2.88127643
56Skin nodule (HP:0200036)2.87611111
57Intrahepatic cholestasis (HP:0001406)2.87459611
58Abnormality of dicarboxylic acid metabolism (HP:0010995)2.86896145
59Dicarboxylic aciduria (HP:0003215)2.86896145
60Chronic mucocutaneous candidiasis (HP:0002728)2.83486872
61Recurrent cutaneous fungal infections (HP:0011370)2.83486872
62Amyloidosis (HP:0011034)2.80516221
63Gastrointestinal infarctions (HP:0005244)2.79272237
64Abnormality of binocular vision (HP:0011514)2.78208348
65Diplopia (HP:0000651)2.78208348
66Truncal ataxia (HP:0002078)2.76915411
67Chest pain (HP:0100749)2.74803345
68Encephalitis (HP:0002383)2.74070620
69Hypobetalipoproteinemia (HP:0003563)2.73314479
70Eosinophilia (HP:0001880)2.73063785
71Meningitis (HP:0001287)2.70428316
72Increased IgM level (HP:0003496)2.68751746
73Recurrent abscess formation (HP:0002722)2.68218071
74Febrile seizures (HP:0002373)2.67884375
75Panhypogammaglobulinemia (HP:0003139)2.66935935
76Papilledema (HP:0001085)2.63846086
77IgM deficiency (HP:0002850)2.63022700
78Leukocytosis (HP:0001974)2.60340405
79Growth hormone excess (HP:0000845)2.59396155
80Abnormality of serum amino acid levels (HP:0003112)2.58733368
81Insulin resistance (HP:0000855)2.57252597
82Colitis (HP:0002583)2.56159105
83Retrobulbar optic neuritis (HP:0100654)2.51927561
84Optic neuritis (HP:0100653)2.51927561
85Agammaglobulinemia (HP:0004432)2.51497486
86Pancreatitis (HP:0001733)2.51058455
87Abnormality of B cell number (HP:0010975)2.50873648
88Hypoplasia of the thymus (HP:0000778)2.49165061
89Mediastinal lymphadenopathy (HP:0100721)2.47708096
90Subacute progressive viral hepatitis (HP:0006572)2.46986974
91Recurrent viral infections (HP:0004429)2.46606157
92Hepatoblastoma (HP:0002884)2.45510509
93Abnormality of monocarboxylic acid metabolism (HP:0010996)2.45152023
94Lymphopenia (HP:0001888)2.44520655
95Papillary thyroid carcinoma (HP:0002895)2.44222059
96Acute hepatic failure (HP:0006554)2.44194783
97Inflammation of the large intestine (HP:0002037)2.43527819
98Subcapsular cataract (HP:0000523)2.43140098
99Rhabdomyolysis (HP:0003201)2.42829404
100Action tremor (HP:0002345)2.41488679
101Focal seizures (HP:0007359)2.39814238
102Abnormality of the common coagulation pathway (HP:0010990)2.38272867
103Amyotrophic lateral sclerosis (HP:0007354)2.38173712
104Thyroid-stimulating hormone excess (HP:0002925)2.37489240
105B lymphocytopenia (HP:0010976)2.36511965
106Spontaneous hematomas (HP:0007420)2.35709734
107Myositis (HP:0100614)2.35673012
108Protruding tongue (HP:0010808)2.35202135
109Recurrent skin infections (HP:0001581)2.35148384
110Bone cyst (HP:0012062)2.29998618
111Combined immunodeficiency (HP:0005387)2.27975165
112Postural instability (HP:0002172)2.26745957
113Vasculitis (HP:0002633)2.26548424
114Bronchitis (HP:0012387)2.24150825
115Granulocytopenia (HP:0001913)2.24079241
116Abnormality of aspartate family amino acid metabolism (HP:0010899)2.23661453
117Abnormality of cells of the lymphoid lineage (HP:0012140)2.23529382
118Epileptic encephalopathy (HP:0200134)2.22744771
119Hypoglycemic seizures (HP:0002173)2.20381171
120Abnormality of purine metabolism (HP:0004352)2.19460912
121Gastrointestinal inflammation (HP:0004386)2.19073695
122Metabolic acidosis (HP:0001942)2.18920324
123Myokymia (HP:0002411)2.18455986
124Abnormal eating behavior (HP:0100738)2.18027803
125Prenatal maternal abnormality (HP:0002686)2.14007018
126Reduced subcutaneous adipose tissue (HP:0003758)2.12971941
127Recurrent gram-negative bacterial infections (HP:0005420)2.12333046
128Viral hepatitis (HP:0006562)2.11921686
129Brushfield spots (HP:0001088)2.11768389
130Hypoproteinemia (HP:0003075)2.10673964
131Atonic seizures (HP:0010819)2.09265401
132Slow saccadic eye movements (HP:0000514)2.08988058
133Pulmonary infiltrates (HP:0002113)2.08796418
134Orchitis (HP:0100796)2.08181989
135Tetraparesis (HP:0002273)2.08077799
136Difficulty running (HP:0009046)2.07816233
137Nausea (HP:0002018)2.05989654
138Toxemia of pregnancy (HP:0100603)2.04863822
139Hyperpituitarism (HP:0010514)2.04782606
140Genetic anticipation (HP:0003743)2.03903280
141Increased muscle lipid content (HP:0009058)2.03235674
142Papilloma (HP:0012740)2.03122719
143Verrucae (HP:0200043)2.03122719
144Hypochromic microcytic anemia (HP:0004840)2.02388471
145Lethargy (HP:0001254)2.02368246
146Hyperthyroidism (HP:0000836)2.01959561
147Neonatal hypoglycemia (HP:0001998)2.00820843
148Keratoconjunctivitis sicca (HP:0001097)2.00182911
149Glomerulonephritis (HP:0000099)2.00016034
150IgA deficiency (HP:0002720)1.99378357
151Abnormality of methionine metabolism (HP:0010901)1.97994789
152Abnormality of sulfur amino acid metabolism (HP:0004339)1.97144836
153Visual hallucinations (HP:0002367)1.96659630
154Chronic diarrhea (HP:0002028)1.96611512
155Hemiparesis (HP:0001269)1.94356613
156Neoplasm of the adrenal cortex (HP:0100641)1.94169615
157Excessive salivation (HP:0003781)1.93051562
158Gingival bleeding (HP:0000225)1.92708977
159Hyperglycemia (HP:0003074)1.92280242
160Hyperventilation (HP:0002883)1.90807736
161Vomiting (HP:0002013)1.88502572
162Long nose (HP:0003189)1.88365797
163Sensorimotor neuropathy (HP:0007141)1.88340624
164Large hands (HP:0001176)1.87312823
165Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.87227266
166Glucose intolerance (HP:0000833)1.87205474
167Hemoptysis (HP:0002105)1.86335421
168Chronic sinusitis (HP:0011109)1.84108583
169Generalized aminoaciduria (HP:0002909)1.84020109
170Delayed CNS myelination (HP:0002188)1.83294797
171Gaze-evoked nystagmus (HP:0000640)1.82849364
172Accelerated skeletal maturation (HP:0005616)1.82398001
173Polygenic inheritance (HP:0010982)1.82353032
174Cholelithiasis (HP:0001081)1.81982015
175Abnormal gallbladder morphology (HP:0012437)1.80734868
176Exercise-induced myalgia (HP:0003738)1.80506034
177Keratoconjunctivitis (HP:0001096)1.80232812
178Nephritis (HP:0000123)1.79521769
179Poor eye contact (HP:0000817)1.79257258
180Abnormality of nucleobase metabolism (HP:0010932)1.78984649
181Cerebral edema (HP:0002181)1.76303122
182Hyperbilirubinemia (HP:0002904)1.75746665
183Central scotoma (HP:0000603)1.75260439
184Abnormal gallbladder physiology (HP:0012438)1.74900314
185Cholecystitis (HP:0001082)1.74900314
186Polyphagia (HP:0002591)1.68468847
187Renal cortical cysts (HP:0000803)1.68043269
188Limb hypertonia (HP:0002509)1.66370218
189Hyperinsulinemic hypoglycemia (HP:0000825)1.66162763
190Abnormality of the intrinsic pathway (HP:0010989)1.65930674
191Abnormality of the lumbar spine (HP:0100712)1.65897469
192Methylmalonic aciduria (HP:0012120)1.64411942
193Upper motor neuron abnormality (HP:0002127)1.64364578

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CAMK1D5.78432917
2SIK14.45185968
3BCKDK4.39529695
4TRIB34.29002186
5CAMK1G4.27218048
6TXK4.17815921
7MAP4K13.20030907
8INSRR3.18296769
9RIPK12.69971597
10MARK12.41965877
11LMTK21.97217149
12DAPK21.89924756
13MAP4K21.88024588
14PRKAA21.86159800
15IKBKE1.82517649
16MAPK131.82446446
17ITK1.79829492
18GRK61.75125817
19ERN11.73418479
20PHKG21.73173052
21PHKG11.73173052
22MAP2K41.71236854
23BLK1.70247705
24MST1R1.69950893
25PDK41.68120685
26PDK31.68120685
27SYK1.66421946
28MAP3K101.56046175
29EPHA31.55638641
30WNK31.54598307
31FGFR21.53948269
32TAOK31.52072237
33FGFR31.49969926
34MAP3K61.44129304
35CCNB11.40091201
36JAK31.38221145
37TEC1.32381586
38NLK1.31004289
39TGFBR21.25188619
40BTK1.24566948
41PINK11.22964565
42FGFR41.13114205
43FRK1.12706724
44LCK1.11532367
45CDK91.11373872
46MAP3K41.11335939
47YES11.09946814
48TNK21.07989753
49PRKAA11.04271655
50LYN1.04020044
51BCR1.03563138
52MAPK111.02992470
53JAK11.02841063
54HCK1.01196420
55CAMKK21.00995536
56PRKCQ0.99633558
57PKN20.97968988
58PDPK10.95652143
59EPHA40.95530975
60MAP3K140.94316275
61PDK20.94164083
62SGK30.90360894
63IRAK40.85936913
64NEK90.85551698
65SGK20.85357114
66UHMK10.85344800
67SGK4940.83891595
68SGK2230.83891595
69PIM10.83734547
70CDK60.83720282
71JAK20.83204028
72FGR0.82812133
73KDR0.82389217
74PRKACG0.81986743
75PRPF4B0.81294911
76MAP2K10.79050482
77PDK10.77891603
78MAP2K70.75161348
79ZAP700.74931618
80PAK60.74515426
81FYN0.74208616
82TYRO30.73326943
83CSF1R0.73189808
84MAPK70.71722344
85TAOK10.70477236
86CAMKK10.70449208
87PIK3CA0.69820230
88PRKCH0.69741154
89RET0.69631905
90CAMK10.69450045
91ERBB30.68907577
92MAPK120.68901854
93NTRK20.67987698
94RAF10.67898541
95IRAK10.65861561
96CSNK1A1L0.65643514
97CDK190.64621099
98MINK10.62956714
99IGF1R0.61323253
100PRKD30.61314566
101TIE10.60375948
102MAP3K130.60330442
103IKBKB0.58552011
104BMPR20.57363636
105PTK2B0.56725541
106TNIK0.55202932
107CASK0.54894915
108KIT0.54665278
109CSNK1G20.54219783
110PLK20.54165987
111MARK30.52468483
112DYRK1A0.52244978
113MAP3K70.51465259
114PKN10.50493815
115PDGFRA0.50308946
116RPS6KB10.49302796
117DAPK10.49064186
118PRKCZ0.48465910
119IRAK30.48379803
120HIPK20.47572258
121PAK30.47219751
122KSR10.47092573
123STK380.46411445
124CSNK1G30.44847098
125NTRK30.43779029
126MAPK40.42714920
127FER0.42659818
128FES0.41637935
129CAMK2A0.41620160
130ERBB20.41531725
131CLK10.41335743
132FGFR10.40893812
133CDK50.40274956
134TYK20.40051735
135MAP2K30.40026473
136STK110.39167179
137CAMK40.37227487
138PIK3CG0.36164790
139FLT30.34376688
140SIK20.34047232
141IRAK20.33989182
142KSR20.33052308
143RPS6KA30.32639392
144CSK0.30703176
145PRKG10.29819878
146SRC0.29439618
147PRKACA0.29255339
148PRKD10.29107671
149GSK3A0.29017100
150SGK10.28825802
151TAOK20.28153298
152ABL20.26253631
153INSR0.25488904
154PRKG20.25419655
155GRK50.25363804
156RIPK40.24742933

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.65929798
2Propanoate metabolism_Homo sapiens_hsa006403.56082549
3Nitrogen metabolism_Homo sapiens_hsa009103.53223845
4PPAR signaling pathway_Homo sapiens_hsa033203.48855653
5Fatty acid biosynthesis_Homo sapiens_hsa000613.34402575
6Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.07755220
7Fatty acid metabolism_Homo sapiens_hsa012122.99699034
8Fatty acid degradation_Homo sapiens_hsa000712.92568117
9Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.71459320
10T cell receptor signaling pathway_Homo sapiens_hsa046602.57419628
11Primary bile acid biosynthesis_Homo sapiens_hsa001202.47838086
12Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.44227897
13Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.26865831
14Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.18416715
15Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.16664260
162-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.10000166
17Glycerolipid metabolism_Homo sapiens_hsa005612.09152065
18beta-Alanine metabolism_Homo sapiens_hsa004102.09101525
19Graft-versus-host disease_Homo sapiens_hsa053322.06216232
20Arginine biosynthesis_Homo sapiens_hsa002202.02106417
21Pyruvate metabolism_Homo sapiens_hsa006201.96066002
22Butanoate metabolism_Homo sapiens_hsa006501.92076181
23Autoimmune thyroid disease_Homo sapiens_hsa053201.90218262
24B cell receptor signaling pathway_Homo sapiens_hsa046621.85329014
25Staphylococcus aureus infection_Homo sapiens_hsa051501.83134966
26* Peroxisome_Homo sapiens_hsa041461.82211650
27Caffeine metabolism_Homo sapiens_hsa002321.82028009
28Complement and coagulation cascades_Homo sapiens_hsa046101.81766953
29Allograft rejection_Homo sapiens_hsa053301.80867330
30Long-term potentiation_Homo sapiens_hsa047201.79434115
31Tryptophan metabolism_Homo sapiens_hsa003801.74524872
32Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.73302107
33Measles_Homo sapiens_hsa051621.70746040
34Amphetamine addiction_Homo sapiens_hsa050311.67857723
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.55776910
36Carbon metabolism_Homo sapiens_hsa012001.55189507
37Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.53364025
38Osteoclast differentiation_Homo sapiens_hsa043801.52652363
39Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.46152915
40Phenylalanine metabolism_Homo sapiens_hsa003601.44513029
41Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.42753213
42Fat digestion and absorption_Homo sapiens_hsa049751.41412739
43Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.35924393
44Pentose and glucuronate interconversions_Homo sapiens_hsa000401.34914441
45Type I diabetes mellitus_Homo sapiens_hsa049401.34837218
46Adipocytokine signaling pathway_Homo sapiens_hsa049201.33184244
47Chemokine signaling pathway_Homo sapiens_hsa040621.31111541
48Antigen processing and presentation_Homo sapiens_hsa046121.24207879
49Hematopoietic cell lineage_Homo sapiens_hsa046401.23663875
50Tyrosine metabolism_Homo sapiens_hsa003501.21795511
51Jak-STAT signaling pathway_Homo sapiens_hsa046301.21715455
52Fatty acid elongation_Homo sapiens_hsa000621.21707115
53Cholinergic synapse_Homo sapiens_hsa047251.19789265
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.18715270
55Starch and sucrose metabolism_Homo sapiens_hsa005001.15782444
56Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.15270880
57AMPK signaling pathway_Homo sapiens_hsa041521.14173801
58Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.14071210
59Chemical carcinogenesis_Homo sapiens_hsa052041.11936683
60Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.11573697
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.11046865
62Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10238792
63Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.10079685
64NF-kappa B signaling pathway_Homo sapiens_hsa040641.09111027
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.07262899
66Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.05711033
67Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.04925737
68Acute myeloid leukemia_Homo sapiens_hsa052211.04384039
69Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.03815631
70Non-small cell lung cancer_Homo sapiens_hsa052231.03627917
71Vitamin B6 metabolism_Homo sapiens_hsa007501.03568420
72Malaria_Homo sapiens_hsa051441.01305631
73Gastric acid secretion_Homo sapiens_hsa049711.00575669
74Dopaminergic synapse_Homo sapiens_hsa047280.99841620
75Intestinal immune network for IgA production_Homo sapiens_hsa046720.97769106
76RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.97446173
77Histidine metabolism_Homo sapiens_hsa003400.97396914
78NOD-like receptor signaling pathway_Homo sapiens_hsa046210.97229390
79Toll-like receptor signaling pathway_Homo sapiens_hsa046200.96463396
80Bile secretion_Homo sapiens_hsa049760.96058427
81Leishmaniasis_Homo sapiens_hsa051400.94690176
82Oxytocin signaling pathway_Homo sapiens_hsa049210.93562669
83Pentose phosphate pathway_Homo sapiens_hsa000300.92884224
84Dorso-ventral axis formation_Homo sapiens_hsa043200.91851250
85Platelet activation_Homo sapiens_hsa046110.89813788
86Biosynthesis of amino acids_Homo sapiens_hsa012300.89748605
87Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.89631252
88Glioma_Homo sapiens_hsa052140.88981363
89Viral myocarditis_Homo sapiens_hsa054160.88376672
90Neurotrophin signaling pathway_Homo sapiens_hsa047220.87837712
91Endometrial cancer_Homo sapiens_hsa052130.87722897
92Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.87526639
93Tuberculosis_Homo sapiens_hsa051520.86941332
94Retinol metabolism_Homo sapiens_hsa008300.86770888
95Insulin resistance_Homo sapiens_hsa049310.85051303
96Steroid hormone biosynthesis_Homo sapiens_hsa001400.82540463
97Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.82093173
98Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.81815900
99Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.80529117
100Prolactin signaling pathway_Homo sapiens_hsa049170.80400674
101Phospholipase D signaling pathway_Homo sapiens_hsa040720.78629923
102Insulin signaling pathway_Homo sapiens_hsa049100.76869390
103Estrogen signaling pathway_Homo sapiens_hsa049150.75943491
104Glucagon signaling pathway_Homo sapiens_hsa049220.75726898
105* ABC transporters_Homo sapiens_hsa020100.75661027
106Long-term depression_Homo sapiens_hsa047300.75519510
107Taste transduction_Homo sapiens_hsa047420.73554474
108Drug metabolism - other enzymes_Homo sapiens_hsa009830.70128047
109Renin secretion_Homo sapiens_hsa049240.67201638
110VEGF signaling pathway_Homo sapiens_hsa043700.66398725
111FoxO signaling pathway_Homo sapiens_hsa040680.64066468
112Cocaine addiction_Homo sapiens_hsa050300.63877645
113Ras signaling pathway_Homo sapiens_hsa040140.63854571
114Choline metabolism in cancer_Homo sapiens_hsa052310.60595121
115Lysine degradation_Homo sapiens_hsa003100.60432987
116Toxoplasmosis_Homo sapiens_hsa051450.60298974
117Hepatitis B_Homo sapiens_hsa051610.60029176
118Sulfur metabolism_Homo sapiens_hsa009200.59546428
119Glycerophospholipid metabolism_Homo sapiens_hsa005640.59180906
120SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58417392
121GnRH signaling pathway_Homo sapiens_hsa049120.58050419
122Fructose and mannose metabolism_Homo sapiens_hsa000510.57694809
123ErbB signaling pathway_Homo sapiens_hsa040120.57258915
124Insulin secretion_Homo sapiens_hsa049110.57059548
125Colorectal cancer_Homo sapiens_hsa052100.56375087
126Vascular smooth muscle contraction_Homo sapiens_hsa042700.56258882
127mTOR signaling pathway_Homo sapiens_hsa041500.56163154
128Influenza A_Homo sapiens_hsa051640.54390476
129Leukocyte transendothelial migration_Homo sapiens_hsa046700.53989256
130Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53233294
131TNF signaling pathway_Homo sapiens_hsa046680.52904682
132Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.52362251
133Type II diabetes mellitus_Homo sapiens_hsa049300.52147499
134Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.50675124
135MAPK signaling pathway_Homo sapiens_hsa040100.49518407
136Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.47044673
137Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43476194
138Cysteine and methionine metabolism_Homo sapiens_hsa002700.39003826
139GABAergic synapse_Homo sapiens_hsa047270.35577038
140Selenocompound metabolism_Homo sapiens_hsa004500.35510604
141Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.34689076
142Olfactory transduction_Homo sapiens_hsa047400.31772397
143Salivary secretion_Homo sapiens_hsa049700.30663808
144Morphine addiction_Homo sapiens_hsa050320.30040399
145Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.27107795
146Metabolic pathways_Homo sapiens_hsa011000.25756124
147cAMP signaling pathway_Homo sapiens_hsa040240.22799823
148Central carbon metabolism in cancer_Homo sapiens_hsa052300.22782212
149Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.21682622
150Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.21314468
151Vitamin digestion and absorption_Homo sapiens_hsa049770.21140917
152Sulfur relay system_Homo sapiens_hsa041220.20956794
153Arginine and proline metabolism_Homo sapiens_hsa003300.20656598
154alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.19948664
155Galactose metabolism_Homo sapiens_hsa000520.17998880
156Lysosome_Homo sapiens_hsa041420.17992822
157Glycosaminoglycan degradation_Homo sapiens_hsa005310.16639709
158Glutathione metabolism_Homo sapiens_hsa004800.15832162
159Carbohydrate digestion and absorption_Homo sapiens_hsa049730.13094405
160Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.13025668
161Circadian entrainment_Homo sapiens_hsa047130.12880060
162cGMP-PKG signaling pathway_Homo sapiens_hsa040220.11976440
163Circadian rhythm_Homo sapiens_hsa047100.10481082
164Aldosterone synthesis and secretion_Homo sapiens_hsa049250.08720656
165Nicotine addiction_Homo sapiens_hsa050330.08151159
166Synaptic vesicle cycle_Homo sapiens_hsa047210.08091910
167Thyroid hormone synthesis_Homo sapiens_hsa049180.06107629
168Linoleic acid metabolism_Homo sapiens_hsa005910.03310040
169Calcium signaling pathway_Homo sapiens_hsa040200.02236538
170Steroid biosynthesis_Homo sapiens_hsa001000.01438005
171Glutamatergic synapse_Homo sapiens_hsa047240.01215653
172Prion diseases_Homo sapiens_hsa050200.00925615

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