CYP27B1

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





Description: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1drug transmembrane transport (GO:0006855)6.28968941
2valine metabolic process (GO:0006573)5.91469951
3urate metabolic process (GO:0046415)5.59439123
4maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.50717556
5* regulation of vitamin D biosynthetic process (GO:0060556)5.33032859
6protein retention in ER lumen (GO:0006621)5.30553713
7drug transport (GO:0015893)5.22493356
8phosphate ion transport (GO:0006817)5.08069491
9regulation of T-helper 1 cell differentiation (GO:0045625)4.99134296
10aminoglycoside antibiotic metabolic process (GO:0030647)4.75982297
11positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)4.75139119
12positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)4.72574391
13regulation of chronic inflammatory response (GO:0002676)4.71845631
14organic cation transport (GO:0015695)4.69325765
15negative regulation of interleukin-12 production (GO:0032695)4.68081829
16cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.58662483
17response to peptidoglycan (GO:0032494)4.57686391
18relaxation of cardiac muscle (GO:0055119)4.44404765
19T-helper 1 type immune response (GO:0042088)4.40007710
20positive regulation of heat generation (GO:0031652)4.38628891
21nucleotide-sugar biosynthetic process (GO:0009226)4.30353725
22lysine catabolic process (GO:0006554)4.25772716
23lysine metabolic process (GO:0006553)4.25772716
24keratan sulfate catabolic process (GO:0042340)4.22485343
25negative regulation of erythrocyte differentiation (GO:0045647)4.21383014
26lipopolysaccharide-mediated signaling pathway (GO:0031663)4.20822287
27regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)4.20411162
28regulation of glucocorticoid secretion (GO:2000849)4.14855820
29regulation of fever generation (GO:0031620)4.08608346
30exogenous drug catabolic process (GO:0042738)4.07040309
31regulation of cytokine secretion involved in immune response (GO:0002739)4.03705671
32* regulation of vitamin metabolic process (GO:0030656)4.00177122
33regulation of interferon-alpha production (GO:0032647)3.98548107
34cell aggregation (GO:0098743)3.98130460
35cartilage condensation (GO:0001502)3.98130460
36NIK/NF-kappaB signaling (GO:0038061)3.97686615
37oligosaccharide catabolic process (GO:0009313)3.94895835
38mitotic G1 DNA damage checkpoint (GO:0031571)3.94753151
39regulation of podosome assembly (GO:0071801)3.94335278
40quaternary ammonium group transport (GO:0015697)3.92321073
41membrane repolarization during action potential (GO:0086011)3.90395973
42hippo signaling (GO:0035329)3.89090018
43myeloid dendritic cell differentiation (GO:0043011)3.85969494
44positive regulation of chemokine biosynthetic process (GO:0045080)3.81334591
45branched-chain amino acid metabolic process (GO:0009081)3.81139165
46glycosphingolipid catabolic process (GO:0046479)3.80062545
47branching involved in labyrinthine layer morphogenesis (GO:0060670)3.78828468
48positive regulation of T-helper cell differentiation (GO:0045624)3.77453989
49positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.72610842
50regulation of corticosteroid hormone secretion (GO:2000846)3.71375162
51L-alpha-amino acid transmembrane transport (GO:1902475)3.70582037
52positive regulation of NF-kappaB import into nucleus (GO:0042346)3.69833542
53negative regulation of inflammatory response to antigenic stimulus (GO:0002862)3.69287000
54drug catabolic process (GO:0042737)3.69241826
55carnitine metabolic process (GO:0009437)3.65029953
56positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.61356216
57regulation of mononuclear cell migration (GO:0071675)3.60505817
58regulation of membrane protein ectodomain proteolysis (GO:0051043)3.60317478
59dopamine biosynthetic process (GO:0042416)3.59272802
603-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.58280566
61purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.58280566
62regulation of chemokine biosynthetic process (GO:0045073)3.53556439
63negative regulation of nitric oxide biosynthetic process (GO:0045019)3.53323307
64negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.52090182
65mitotic G1/S transition checkpoint (GO:0044819)3.51782507
66response to protozoan (GO:0001562)3.51548067
67phosphate ion transmembrane transport (GO:0035435)3.50329550
68regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.50161153
69cellular response to type I interferon (GO:0071357)3.49164587
70type I interferon signaling pathway (GO:0060337)3.49164587
71macrophage activation involved in immune response (GO:0002281)3.48042410
72proline metabolic process (GO:0006560)3.47258872
73defense response to protozoan (GO:0042832)3.46461123
74regulation of T-helper cell differentiation (GO:0045622)3.44970148
75response to type I interferon (GO:0034340)3.43961570
76COPII vesicle coating (GO:0048208)3.42623549
77excretion (GO:0007588)3.41640535
78response to mercury ion (GO:0046689)3.41448028
79L-phenylalanine metabolic process (GO:0006558)3.40958811
80erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.40958811
81membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.40957164
82erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.39743325
83L-phenylalanine catabolic process (GO:0006559)3.39743325
84signal peptide processing (GO:0006465)3.39584970
85glycolipid catabolic process (GO:0019377)3.39278786
86regulation of interferon-gamma biosynthetic process (GO:0045072)3.38745339
87positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.38703780
88tricarboxylic acid metabolic process (GO:0072350)3.38056570
89peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.36341857
90sequestering of metal ion (GO:0051238)3.35968894
91positive regulation of type 2 immune response (GO:0002830)3.35031972
92positive regulation of interleukin-17 production (GO:0032740)3.34384084
93positive regulation of defense response to virus by host (GO:0002230)3.32724902
94regulation of cardioblast differentiation (GO:0051890)3.32503109
95chondrocyte development (GO:0002063)3.31617484
96regulation of interleukin-12 production (GO:0032655)3.27083327
97regulation of heat generation (GO:0031650)3.26963992
98G1 DNA damage checkpoint (GO:0044783)3.26918924
99response to hepatocyte growth factor (GO:0035728)3.26508713
100cellular response to hepatocyte growth factor stimulus (GO:0035729)3.26508713
101cellular response to thyroid hormone stimulus (GO:0097067)3.25622410
102protein heterotrimerization (GO:0070208)3.24664756
103nonribosomal peptide biosynthetic process (GO:0019184)3.24575929
104positive regulation of interferon-alpha production (GO:0032727)3.24564124
105amino-acid betaine metabolic process (GO:0006577)3.23583458
106myeloid dendritic cell activation (GO:0001773)3.23297806
107aldehyde catabolic process (GO:0046185)3.22051874
108cellular response to lipopolysaccharide (GO:0071222)3.21763836
109positive regulation of steroid hormone secretion (GO:2000833)3.21640474
110branched-chain amino acid catabolic process (GO:0009083)3.21542661
111collagen fibril organization (GO:0030199)3.19571603
112negative regulation of myeloid cell apoptotic process (GO:0033033)3.18815437
113Golgi transport vesicle coating (GO:0048200)3.18405998
114COPI coating of Golgi vesicle (GO:0048205)3.18405998
115regulation of cholesterol storage (GO:0010885)3.15841052
116regulation of nitric oxide biosynthetic process (GO:0045428)3.14805690
117positive regulation of tissue remodeling (GO:0034105)3.14698074
118positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.14669033
119germinal center formation (GO:0002467)3.12898183
120positive regulation of natural killer cell activation (GO:0032816)3.09782775
121cell volume homeostasis (GO:0006884)3.08936896
122regulation of immunoglobulin secretion (GO:0051023)3.08566194
123regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)3.08556945
124cellular response to molecule of bacterial origin (GO:0071219)3.08494628
125positive regulation of interleukin-10 production (GO:0032733)3.07404252
126immunoglobulin mediated immune response (GO:0016064)3.05995207
127dendritic cell differentiation (GO:0097028)3.02590701
128positive regulation of nitric oxide biosynthetic process (GO:0045429)3.01725352
129positive regulation of transcription factor import into nucleus (GO:0042993)3.00534205
130regulation of inflammatory response to antigenic stimulus (GO:0002861)3.00290313
1314-hydroxyproline metabolic process (GO:0019471)2.99819010
132monocyte chemotaxis (GO:0002548)2.99092738
133positive regulation of interleukin-12 production (GO:0032735)2.98889339
134response to muramyl dipeptide (GO:0032495)2.98544523
135regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)2.97401158
136regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.97251518
137glutathione biosynthetic process (GO:0006750)2.96562842
138positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.96477391
139peptide hormone processing (GO:0016486)2.96448038
140regulation of NF-kappaB import into nucleus (GO:0042345)2.95782672
141vitamin transport (GO:0051180)2.95774592
142regulation of type I interferon-mediated signaling pathway (GO:0060338)2.95633672
143regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.95153802
144regulation of dendritic cell antigen processing and presentation (GO:0002604)2.95153391
145interferon-gamma-mediated signaling pathway (GO:0060333)2.94818747
146ceramide catabolic process (GO:0046514)2.94592337
147regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.92130859
148osteoclast differentiation (GO:0030316)2.91921470
149modulation of growth of symbiont involved in interaction with host (GO:0044144)2.91781040
150regulation of growth of symbiont in host (GO:0044126)2.91781040
151negative regulation of growth of symbiont in host (GO:0044130)2.91781040
152negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.91781040
153positive regulation of osteoclast differentiation (GO:0045672)2.90505783
154negative regulation of lipid storage (GO:0010888)2.89971668
155neurotransmitter catabolic process (GO:0042135)2.89563047
156gland morphogenesis (GO:0022612)2.88858436
157regulation of interferon-beta biosynthetic process (GO:0045357)2.88604897
158fatty acid beta-oxidation (GO:0006635)2.88472334
159positive regulation of interleukin-6 production (GO:0032755)2.87995708
160positive regulation of T-helper 1 type immune response (GO:0002827)2.87512734
161regulation of T-helper 1 type immune response (GO:0002825)2.86867702
162negative regulation of interleukin-17 production (GO:0032700)2.84071845
163eosinophil chemotaxis (GO:0048245)2.83755273
164positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)2.82649920
165negative regulation of interleukin-10 production (GO:0032693)2.82384761
166activation of MAPKKK activity (GO:0000185)2.81520009
167membrane lipid catabolic process (GO:0046466)2.81360563
168insulin secretion (GO:0030073)2.80965207
169regulation of activation of Janus kinase activity (GO:0010533)2.79856368
170renal absorption (GO:0070293)2.79594487
171* decidualization (GO:0046697)2.79206948
172metanephric tubule development (GO:0072170)2.78634153
173metanephric nephron tubule development (GO:0072234)2.78634153
174neutrophil activation involved in immune response (GO:0002283)2.77703901
175regulation of macrophage cytokine production (GO:0010935)2.76523432
176positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.75924178
1772-oxoglutarate metabolic process (GO:0006103)2.75453066
178sulfur compound catabolic process (GO:0044273)2.75230549
179aromatic amino acid family catabolic process (GO:0009074)2.74428103
180glyoxylate metabolic process (GO:0046487)2.73909487
181tryptophan metabolic process (GO:0006568)2.73382111
182regulation of transforming growth factor beta2 production (GO:0032909)2.72480004
183homocysteine metabolic process (GO:0050667)2.70890800
184toxin transport (GO:1901998)2.68936754
185response to lead ion (GO:0010288)2.66997849
186proline biosynthetic process (GO:0006561)2.66601180
187fucose catabolic process (GO:0019317)2.66133414
188L-fucose metabolic process (GO:0042354)2.66133414
189L-fucose catabolic process (GO:0042355)2.66133414
190uronic acid metabolic process (GO:0006063)2.66114336
191glucuronate metabolic process (GO:0019585)2.66114336
192activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.65967736
193peptide hormone secretion (GO:0030072)2.65869123
194positive regulation of vesicle fusion (GO:0031340)2.64085682
195catecholamine biosynthetic process (GO:0042423)2.63567710
196catechol-containing compound biosynthetic process (GO:0009713)2.63567710
197metanephric nephron epithelium development (GO:0072243)2.60007816
198cellular response to vitamin D (GO:0071305)2.59525712
199cyclic nucleotide catabolic process (GO:0009214)2.59456108
200fatty acid oxidation (GO:0019395)2.58886039

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.06430822
2GATA1_22025678_ChIP-Seq_K562_Human4.76397323
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.47826433
4IRF8_21731497_ChIP-ChIP_J774_Mouse4.05777691
5* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.75137443
6NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.73970562
7ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse3.64907287
8ESR1_21235772_ChIP-Seq_MCF-7_Human3.62664266
9PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.48826594
10BP1_19119308_ChIP-ChIP_Hs578T_Human3.35928115
11IRF8_27001747_Chip-Seq_BMDM_Mouse3.06195856
12CLOCK_20551151_ChIP-Seq_293T_Human3.03989336
13ESR2_21235772_ChIP-Seq_MCF-7_Human2.95464079
14FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.93999669
15AR_21572438_ChIP-Seq_LNCaP_Human2.88062851
16SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.83656785
17* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.81737056
18IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.78059266
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.75178703
20TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.62167755
21STAT4_19710469_ChIP-ChIP_TH1__Mouse2.43872199
22RXR_22158963_ChIP-Seq_LIVER_Mouse2.39078459
23MYB_21317192_ChIP-Seq_ERMYB_Mouse2.38891943
24VDR_21846776_ChIP-Seq_THP-1_Human2.38696351
25WT1_19549856_ChIP-ChIP_CCG9911_Human2.30041023
26IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.28887201
27Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.22380829
28MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.09799820
29RARG_19884340_ChIP-ChIP_MEFs_Mouse2.07015540
30LXR_22158963_ChIP-Seq_LIVER_Mouse2.05715695
31AR_21909140_ChIP-Seq_LNCAP_Human2.05668008
32ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.03571195
33BRD4_27068464_Chip-Seq_AML-cells_Mouse1.96605319
34VDR_24763502_ChIP-Seq_THP-1_Human1.91130547
35* ELK3_25401928_ChIP-Seq_HUVEC_Human1.90223152
36EGR1_19374776_ChIP-ChIP_THP-1_Human1.87281319
37ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.86485183
38ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.83295016
39STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.77654664
40TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.77179502
41STAT6_21828071_ChIP-Seq_BEAS2B_Human1.74899148
42PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.74223650
43SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.73878456
44TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.71849358
45PPARA_22158963_ChIP-Seq_LIVER_Mouse1.69587011
46TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.69077037
47FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.68451209
48SOX2_20726797_ChIP-Seq_SW620_Human1.67311750
49VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.64734342
50KDM2B_26808549_Chip-Seq_SUP-B15_Human1.63784042
51PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.62225789
52RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.59454246
53PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.59300793
54CJUN_26792858_Chip-Seq_BT549_Human1.57369123
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.57179209
56STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.56824585
57WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.55829697
58PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.55655497
59ZNF217_24962896_ChIP-Seq_MCF-7_Human1.55036245
60EP300_21415370_ChIP-Seq_HL-1_Mouse1.54340629
61KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.54189047
62* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.54154511
63MYC_22102868_ChIP-Seq_BL_Human1.54065234
64* MAF_26560356_Chip-Seq_TH1_Human1.50333036
65CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.49160025
66VDR_24787735_ChIP-Seq_THP-1_Human1.45927795
67CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.44105852
68RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.40348376
69SPI1_23547873_ChIP-Seq_NB4_Human1.40275660
70PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.34614123
71SMAD_19615063_ChIP-ChIP_OVARY_Human1.32671708
72KDM2B_26808549_Chip-Seq_DND41_Human1.31970559
73SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.31630433
74NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.30679228
75ZNF263_19887448_ChIP-Seq_K562_Human1.30400036
76RUNX1_22412390_ChIP-Seq_EML_Mouse1.29728350
77SPI1_23127762_ChIP-Seq_K562_Human1.29514204
78E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.28742495
79* RACK7_27058665_Chip-Seq_MCF-7_Human1.28060317
80NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.26898164
81TCF7_22412390_ChIP-Seq_EML_Mouse1.26859448
82FOXO3_23340844_ChIP-Seq_DLD1_Human1.26823662
83PU_27001747_Chip-Seq_BMDM_Mouse1.25819689
84AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.24932381
85FOXA2_19822575_ChIP-Seq_HepG2_Human1.23605920
86SOX2_27498859_Chip-Seq_STOMACH_Mouse1.23532587
87LXR_22292898_ChIP-Seq_THP-1_Human1.22239573
88TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.21221070
89MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.20945165
90EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.19711717
91STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.19416931
92MTF2_20144788_ChIP-Seq_MESCs_Mouse1.18433301
93TBX20_22080862_ChIP-Seq_HEART_Mouse1.17808879
94TBX20_22328084_ChIP-Seq_HEART_Mouse1.17808879
95CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.17568713
96SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.17228190
97SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.17228190
98TFEB_21752829_ChIP-Seq_HELA_Human1.17057064
99TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.14917123
100* MAF_26560356_Chip-Seq_TH2_Human1.14914311
101TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.13187458
102SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.12645646
103CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11479694
104PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.11038538
105SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.10894436
106SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.10312893
107STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.09406094
108POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.09192843
109DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.08912308
110SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.08205725
111* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08185303
112SCL_19346495_ChIP-Seq_HPC-7_Human1.07999179
113SALL4_18804426_ChIP-ChIP_XEN_Mouse1.07949296
114HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.07689169
115SOX2_21211035_ChIP-Seq_LN229_Gbm1.07650022
116STAT3_1855785_ChIP-Seq_MESCs_Mouse1.07649881
117CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.07636085
118NR3C1_23031785_ChIP-Seq_PC12_Mouse1.06908203
119ATF3_27146783_Chip-Seq_COLON_Human1.06542207
120CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.05954311
121FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.05658329
122KDM2B_26808549_Chip-Seq_K562_Human1.05259505
123FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.03940096
124* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.03686529
125CREB1_26743006_Chip-Seq_LNCaP_Human1.03450944
126MITF_21258399_ChIP-Seq_MELANOMA_Human1.02643102
127SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.02501726
128* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.02176441
129TBX3_20139965_ChIP-Seq_MESCs_Mouse1.01911864
130FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.01534388
131* UBF1/2_26484160_Chip-Seq_HMECs_Human1.01518242
132DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.01464843
133UTX_26944678_Chip-Seq_JUKART_Human1.01089957
134KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.00467533
135CTNNB1_20460455_ChIP-Seq_HCT116_Human1.00446637
136TP63_17297297_ChIP-ChIP_HaCaT_Human1.00369810
137* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.00117627
138ERG_21242973_ChIP-ChIP_JURKAT_Human0.99709683
139TBX3_20139965_ChIP-Seq_ESCs_Mouse0.99272168
140RXR_22108803_ChIP-Seq_LS180_Human0.98527646
141THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98359898
142FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.98300026
143SRY_22984422_ChIP-ChIP_TESTIS_Rat0.98146353
144FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.98095950
145RARB_27405468_Chip-Seq_BRAIN_Mouse0.98092558
146GATA6_25053715_ChIP-Seq_YYC3_Human0.97888134
147BCOR_27268052_Chip-Seq_Bcells_Human0.96411259
148TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.96224276
149HNF4A_19822575_ChIP-Seq_HepG2_Human0.95553183
150NCOR1_26117541_ChIP-Seq_K562_Human0.95416695
151FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.95125316
152* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.94516633
153GATA1_19941827_ChIP-Seq_MEL_Mouse0.94384357
154DROSHA_22980978_ChIP-Seq_HELA_Human0.94155787
155TET1_21490601_ChIP-Seq_MESCs_Mouse0.93379498
156NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.92604344
157CTCF_27219007_Chip-Seq_ERYTHROID_Human0.92358895
158GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.91832450
159SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.91461620
160P300_27058665_Chip-Seq_ZR-75-30cells_Human0.90246133
161GATA2_21666600_ChIP-Seq_HMVEC_Human0.89209553
162ZFP281_18757296_ChIP-ChIP_E14_Mouse0.89111646
163EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.89022516
164JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89020759
165WT1_25993318_ChIP-Seq_PODOCYTE_Human0.88547823
166NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.88547169
167* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.88201190
168SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.87904411
169SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.87442687
170FOXM1_26456572_ChIP-Seq_MCF-7_Human0.85008756
171CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83951824
172GF1B_26923725_Chip-Seq_HPCs_Mouse0.83313768
173KLF4_19829295_ChIP-Seq_ESCs_Human0.83205275
174TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.82190872

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation5.30377998
2MP0002139_abnormal_hepatobiliary_system4.87316124
3MP0004043_abnormal_pH_regulation4.83192010
4MP0005360_urolithiasis4.29616315
5MP0008438_abnormal_cutaneous_collagen3.68600838
6MP0003195_calcinosis3.62510354
7MP0003252_abnormal_bile_duct3.56972234
8MP0002148_abnormal_hypersensitivity_rea3.45530699
9MP0005058_abnormal_lysosome_morphology3.41594765
10MP0009785_altered_susceptibility_to3.32476120
11MP0005503_abnormal_tendon_morphology3.15624590
12MP0003436_decreased_susceptibility_to3.08417997
13MP0005451_abnormal_body_composition2.97150290
14MP0006082_CNS_inflammation2.95114375
15MP0004510_myositis2.90573209
16MP0009840_abnormal_foam_cell2.86949111
17MP0005332_abnormal_amino_acid2.82029226
18MP0002138_abnormal_hepatobiliary_system2.74601074
19* MP0001765_abnormal_ion_homeostasis2.72738068
20MP0003453_abnormal_keratinocyte_physiol2.63717412
21MP0003724_increased_susceptibility_to2.59208893
22MP0001835_abnormal_antigen_presentation2.45744188
23MP0005000_abnormal_immune_tolerance2.41253500
24MP0002928_abnormal_bile_duct2.38517008
25MP0001790_abnormal_immune_system2.37700437
26MP0005387_immune_system_phenotype2.37700437
27MP0009278_abnormal_bone_marrow2.35451759
28* MP0009643_abnormal_urine_homeostasis2.33880696
29MP0008875_abnormal_xenobiotic_pharmacok2.30338076
30MP0002419_abnormal_innate_immunity2.25871194
31MP0002933_joint_inflammation2.25772650
32MP0004947_skin_inflammation2.23314790
33MP0005025_abnormal_response_to2.22519748
34MP0001756_abnormal_urination2.21528647
35MP0005671_abnormal_response_to2.16750579
36MP0003283_abnormal_digestive_organ2.10785541
37MP0009780_abnormal_chondrocyte_physiolo2.10408058
38MP0000343_altered_response_to2.06878476
39MP0005275_abnormal_skin_tensile2.04318381
40MP0009764_decreased_sensitivity_to2.03352511
41* MP0005636_abnormal_mineral_homeostasis1.98514570
42MP0003191_abnormal_cellular_cholesterol1.97169551
43MP0001853_heart_inflammation1.97064821
44MP0004019_abnormal_vitamin_homeostasis1.94941145
45MP0002877_abnormal_melanocyte_morpholog1.90956096
46MP0001958_emphysema1.89719455
47MP0002452_abnormal_antigen_presenting1.89300463
48MP0003172_abnormal_lysosome_physiology1.88938579
49MP0004885_abnormal_endolymph1.81659696
50MP0003329_amyloid_beta_deposits1.81310277
51* MP0002896_abnormal_bone_mineralization1.78514814
52MP0002723_abnormal_immune_serum1.76714379
53MP0003448_altered_tumor_morphology1.74364738
54MP0001944_abnormal_pancreas_morphology1.71260316
55MP0005397_hematopoietic_system_phenotyp1.70413922
56MP0001545_abnormal_hematopoietic_system1.70413922
57MP0003879_abnormal_hair_cell1.67860988
58MP0002136_abnormal_kidney_physiology1.66940612
59MP0005220_abnormal_exocrine_pancreas1.66678207
60MP0010155_abnormal_intestine_physiology1.65940292
61MP0002909_abnormal_adrenal_gland1.64575838
62MP0001800_abnormal_humoral_immune1.63235326
63MP0001845_abnormal_inflammatory_respons1.62041822
64MP0002089_abnormal_postnatal_growth/wei1.61325301
65MP0002332_abnormal_exercise_endurance1.59618052
66MP0008004_abnormal_stomach_pH1.53570494
67MP0000858_altered_metastatic_potential1.51837911
68MP0004264_abnormal_extraembryonic_tissu1.49711912
69MP0000013_abnormal_adipose_tissue1.47460693
70MP0005167_abnormal_blood-brain_barrier1.46284937
71MP0004272_abnormal_basement_membrane1.45055678
72* MP0008469_abnormal_protein_level1.44659857
73MP0002405_respiratory_system_inflammati1.41996747
74MP0001819_abnormal_immune_cell1.41511510
75MP0002254_reproductive_system_inflammat1.40394942
76* MP0000163_abnormal_cartilage_morphology1.39819187
77MP0002420_abnormal_adaptive_immunity1.39133911
78MP0005166_decreased_susceptibility_to1.38187258
79MP0000685_abnormal_immune_system1.35500932
80MP0003806_abnormal_nucleotide_metabolis1.35259110
81* MP0002115_abnormal_skeleton_extremities1.31937772
82MP0003656_abnormal_erythrocyte_physiolo1.30836813
83MP0005508_abnormal_skeleton_morphology1.30281602
84MP0006054_spinal_hemorrhage1.30077859
85MP0001299_abnormal_eye_distance/1.29954825
86MP0001270_distended_abdomen1.28557109
87MP0002876_abnormal_thyroid_physiology1.26944210
88MP0002282_abnormal_trachea_morphology1.24743468
89MP0003091_abnormal_cell_migration1.23875069
90MP0003646_muscle_fatigue1.23403494
91MP0002295_abnormal_pulmonary_circulatio1.19206541
92MP0003300_gastrointestinal_ulcer1.15956695
93* MP0001216_abnormal_epidermal_layer1.15617797
94MP0008961_abnormal_basal_metabolism1.15031384
95MP0005164_abnormal_response_to1.12460163
96MP0000604_amyloidosis1.10708602
97MP0002108_abnormal_muscle_morphology1.09591015
98MP0005310_abnormal_salivary_gland1.08009212
99MP0009250_abnormal_appendicular_skeleto1.02705706
100MP0008260_abnormal_autophagy1.02236857
101MP0000003_abnormal_adipose_tissue1.01860734
102MP0004808_abnormal_hematopoietic_stem1.00498843
103MP0003566_abnormal_cell_adhesion1.00187806
104MP0000920_abnormal_myelination0.97088737
105MP0000747_muscle_weakness0.96622818
106MP0010234_abnormal_vibrissa_follicle0.96342243
107* MP0000716_abnormal_immune_system0.96326605
108* MP0002113_abnormal_skeleton_development0.94318361
109MP0009763_increased_sensitivity_to0.93841666
110MP0001727_abnormal_embryo_implantation0.93641858
111MP0001664_abnormal_digestion0.93415227
112MP0005076_abnormal_cell_differentiation0.93245665
113MP0000538_abnormal_urinary_bladder0.93114583
114MP0001849_ear_inflammation0.93067352
115MP0000230_abnormal_systemic_arterial0.92601947
116MP0005464_abnormal_platelet_physiology0.91304871
117MP0004134_abnormal_chest_morphology0.90660662
118MP0000579_abnormal_nail_morphology0.90304801
119MP0009765_abnormal_xenobiotic_induced0.90238976
120MP0005390_skeleton_phenotype0.90192653
121MP0002168_other_aberrant_phenotype0.89877460
122MP0001177_atelectasis0.89597956
123MP0001533_abnormal_skeleton_physiology0.87237561
124MP0004883_abnormal_blood_vessel0.86863759
125MP0002693_abnormal_pancreas_physiology0.86339959
126MP0005165_increased_susceptibility_to0.84459820
127MP0004084_abnormal_cardiac_muscle0.83970807
128* MP0003795_abnormal_bone_structure0.83627147
129MP0002078_abnormal_glucose_homeostasis0.83345092
130MP0008874_decreased_physiological_sensi0.82081706
131MP0000681_abnormal_thyroid_gland0.81688518
132MP0005023_abnormal_wound_healing0.81500131
133MP0002998_abnormal_bone_remodeling0.81140488
134MP0005365_abnormal_bile_salt0.79665967
135MP0002837_dystrophic_cardiac_calcinosis0.79354021
136MP0009333_abnormal_splenocyte_physiolog0.78668973
137MP0005171_absent_coat_pigmentation0.78419256
138* MP0003953_abnormal_hormone_level0.77572251
139MP0005408_hypopigmentation0.77430222
140MP0000762_abnormal_tongue_morphology0.77238461
141MP0003705_abnormal_hypodermis_morpholog0.77096027
142MP0002398_abnormal_bone_marrow0.77090603
143MP0005647_abnormal_sex_gland0.76579863
144MP0010307_abnormal_tumor_latency0.76349499
145* MP0002429_abnormal_blood_cell0.75823386
146MP0003690_abnormal_glial_cell0.75254907
147MP0003075_altered_response_to0.75232408
148MP0001542_abnormal_bone_strength0.71242876
149MP0001963_abnormal_hearing_physiology0.70974215
150MP0005666_abnormal_adipose_tissue0.69282106
151MP0005377_hearing/vestibular/ear_phenot0.68606350
152MP0003878_abnormal_ear_physiology0.68606350
153MP0004742_abnormal_vestibular_system0.68440002
154MP0000467_abnormal_esophagus_morphology0.68286972
155MP0000613_abnormal_salivary_gland0.66490208
156MP0000733_abnormal_muscle_development0.66372173
157MP0001485_abnormal_pinna_reflex0.66167253
158MP0000428_abnormal_craniofacial_morphol0.65864772
159MP0010352_gastrointestinal_tract_polyps0.65486452
160MP0004185_abnormal_adipocyte_glucose0.64159450
161MP0004484_altered_response_of0.64088877
162MP0003941_abnormal_skin_development0.64019199
163MP0001191_abnormal_skin_condition0.63544883
164MP0004859_abnormal_synaptic_plasticity0.62317512
165MP0000371_diluted_coat_color0.61427382
166MP0000249_abnormal_blood_vessel0.61351054
167MP0002118_abnormal_lipid_homeostasis0.60496011
168MP0002060_abnormal_skin_morphology0.60166516
169MP0004233_abnormal_muscle_weight0.59387808
170MP0004270_analgesia0.58713554
171MP0005257_abnormal_intraocular_pressure0.58458096
172MP0010678_abnormal_skin_adnexa0.57289773
173MP0000689_abnormal_spleen_morphology0.55769484
174* MP0002722_abnormal_immune_system0.55616731

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolipid metabolism (HP:0010969)7.25378770
2Abnormality of liposaccharide metabolism (HP:0010968)7.25378770
3Abnormality of glycosphingolipid metabolism (HP:0004343)7.25378770
4Abnormal drinking behavior (HP:0030082)6.16500483
5Polydipsia (HP:0001959)6.16500483
6Polyuria (HP:0000103)5.64056586
7Abnormal urine output (HP:0012590)5.20745306
8Severe visual impairment (HP:0001141)4.95615364
9Tubular atrophy (HP:0000092)4.91241927
10Epiphyseal dysplasia (HP:0002656)4.71911433
11Abnormality of renal excretion (HP:0011036)4.70151522
12Tubulointerstitial fibrosis (HP:0005576)4.69281302
13Vacuolated lymphocytes (HP:0001922)4.62015555
14Abnormality of macrophages (HP:0004311)4.50544779
15Metabolic alkalosis (HP:0200114)4.40203471
16* Delayed epiphyseal ossification (HP:0002663)4.36126543
17Increased cerebral lipofuscin (HP:0011813)4.26665099
18Cervical subluxation (HP:0003308)4.21199910
19Recurrent bacterial skin infections (HP:0005406)4.18994834
20Abnormal tarsal ossification (HP:0008369)4.17605577
21Dysostosis multiplex (HP:0000943)4.16670615
22Irregular epiphyses (HP:0010582)4.11732326
23Loss of speech (HP:0002371)4.10634725
24Increased circulating renin level (HP:0000848)3.99290335
25Hypoplastic ischia (HP:0003175)3.93243745
26Vitreoretinal degeneration (HP:0000655)3.92848969
27Systemic lupus erythematosus (HP:0002725)3.85449911
28Disinhibition (HP:0000734)3.79451713
29Orchitis (HP:0100796)3.78488404
30Optic neuritis (HP:0100653)3.76063581
31Retrobulbar optic neuritis (HP:0100654)3.76063581
32Autoimmune thrombocytopenia (HP:0001973)3.69612153
33Gout (HP:0001997)3.67825501
34Hypokalemic alkalosis (HP:0001949)3.55560700
35Nuclear cataract (HP:0100018)3.55122000
36Recurrent abscess formation (HP:0002722)3.51682982
37Neurofibrillary tangles (HP:0002185)3.49127356
38Flat capital femoral epiphysis (HP:0003370)3.48614504
39Proximal tubulopathy (HP:0000114)3.48254928
40Increased neuronal autofluorescent lipopigment (HP:0002074)3.47917031
41Metaphyseal cupping (HP:0003021)3.46152048
42Abnormality of the ischium (HP:0003174)3.45083737
43Cupped ribs (HP:0000887)3.43312827
44Eczematoid dermatitis (HP:0000976)3.42233628
45Hyperactive renin-angiotensin system (HP:0000841)3.34434524
46* Protuberant abdomen (HP:0001538)3.33084201
47Neonatal short-limb short stature (HP:0008921)3.32424560
48Stomatitis (HP:0010280)3.26427596
49* Generalized aminoaciduria (HP:0002909)3.25306088
50Mutism (HP:0002300)3.24766510
51Interstitial pulmonary disease (HP:0006530)3.22517554
52Axonal loss (HP:0003447)3.22371396
53Myositis (HP:0100614)3.21841595
54Tubulointerstitial abnormality (HP:0001969)3.19997686
55Abnormal foot bone ossification (HP:0010675)3.18508909
56Small epiphyses (HP:0010585)3.17443365
57Abnormality of mucopolysaccharide metabolism (HP:0011020)3.17349444
58Abnormality of polysaccharide metabolism (HP:0011012)3.17349444
59Abnormality of glycosaminoglycan metabolism (HP:0004371)3.17349444
60Hypomagnesemia (HP:0002917)3.15763656
61Mediastinal lymphadenopathy (HP:0100721)3.14702178
62Arterial tortuosity (HP:0005116)3.14679841
63Amblyopia (HP:0000646)3.06319720
64Abnormality of renin-angiotensin system (HP:0000847)3.05959227
65Mucopolysacchariduria (HP:0008155)3.05105792
66Urinary glycosaminoglycan excretion (HP:0003541)3.05105792
67Increased serum ferritin (HP:0003281)3.04634952
68Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.03271837
69Flat acetabular roof (HP:0003180)3.00624036
70Thick nail (HP:0001805)2.93644596
71Myocardial infarction (HP:0001658)2.93340899
72Abnormality of chloride homeostasis (HP:0011422)2.92412808
73Keratoconjunctivitis sicca (HP:0001097)2.90905883
74Cerebral inclusion bodies (HP:0100314)2.88551618
75Vascular tortuosity (HP:0004948)2.87700346
76Apathy (HP:0000741)2.84636897
77Abnormality of purine metabolism (HP:0004352)2.77529357
78Hip contracture (HP:0003273)2.77527065
79Hypokalemia (HP:0002900)2.77334138
80Alkalosis (HP:0001948)2.76672887
81Abnormality of magnesium homeostasis (HP:0004921)2.76671567
82Diminished motivation (HP:0000745)2.76272120
83Abnormality of the renal cortex (HP:0011035)2.75142658
84Increased IgM level (HP:0003496)2.72204564
85Gangrene (HP:0100758)2.62304881
86Keratoconjunctivitis (HP:0001096)2.60052983
87Parakeratosis (HP:0001036)2.58682897
88Renal salt wasting (HP:0000127)2.54674572
89Hyperuricemia (HP:0002149)2.53765654
90Increased purine levels (HP:0004368)2.53765654
91Recurrent gram-negative bacterial infections (HP:0005420)2.53431215
92Gastrointestinal infarctions (HP:0005244)2.47726637
93Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.46634070
94Abnormality of carpal bone ossification (HP:0006257)2.42731872
95* Metaphyseal irregularity (HP:0003025)2.42550125
96Hemoptysis (HP:0002105)2.38100653
97Progressive neurologic deterioration (HP:0002344)2.37134317
98Glomerulonephritis (HP:0000099)2.36966776
99Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.35889097
100Vertebral hypoplasia (HP:0008417)2.35889097
101Limited hip movement (HP:0008800)2.34624701
102Hypertensive crisis (HP:0100735)2.33196518
103Abnormal vertebral ossification (HP:0100569)2.31854841
104Milia (HP:0001056)2.31825786
105Neuronal loss in central nervous system (HP:0002529)2.28793195
106Decreased circulating renin level (HP:0003351)2.28644226
107Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.26840718
108Upper motor neuron abnormality (HP:0002127)2.26771504
109Hematochezia (HP:0002573)2.25758078
110Recurrent viral infections (HP:0004429)2.24973794
111Arthropathy (HP:0003040)2.22666150
112Plantar hyperkeratosis (HP:0007556)2.21136789
113Osteoarthritis (HP:0002758)2.20088466
114Abnormal ossification of hand bones (HP:0005921)2.19455352
115Abnormality of iron homeostasis (HP:0011031)2.18897317
116Purpura (HP:0000979)2.17148878
117Flattened epiphyses (HP:0003071)2.16430616
118Nausea (HP:0002018)2.15624301
119Vasculitis (HP:0002633)2.13552092
120Prolonged neonatal jaundice (HP:0006579)2.11950949
121Genu varum (HP:0002970)2.10876135
122Poor head control (HP:0002421)2.09639014
123Abnormality of nail color (HP:0100643)2.09042758
124Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.08389913
125Abnormality of femoral epiphyses (HP:0006499)2.08389913
126Amyloidosis (HP:0011034)2.08362754
127Beaking of vertebral bodies (HP:0004568)2.07913158
128Abnormal hand bone ossification (HP:0010660)2.07177117
129Inappropriate behavior (HP:0000719)2.06889475
130Abnormality of nucleobase metabolism (HP:0010932)2.06452009
131Anorexia (HP:0002039)2.05639915
132Hepatosplenomegaly (HP:0001433)2.04923031
133Recurrent skin infections (HP:0001581)2.03838744
134Abnormality of potassium homeostasis (HP:0011042)2.02853701
135Agnosia (HP:0010524)2.02699163
136Pulmonary infiltrates (HP:0002113)2.02676126
137Hyperaldosteronism (HP:0000859)2.01956165
138Personality changes (HP:0000751)2.01666408
139Onycholysis (HP:0001806)2.00627282
140Amaurosis fugax (HP:0100576)1.99974901
141Ketoacidosis (HP:0001993)1.99250743
142Dementia (HP:0000726)1.99166050
143Asymmetric septal hypertrophy (HP:0001670)1.96559655
144Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.96281367
145Hyperphosphaturia (HP:0003109)1.96128140
146Premature loss of primary teeth (HP:0006323)1.95815042
147Late onset (HP:0003584)1.94733725
148Ulnar bowing (HP:0003031)1.93720215
149* Abdominal distention (HP:0003270)1.93207339
150Stage 5 chronic kidney disease (HP:0003774)1.93033167
151Petechiae (HP:0000967)1.92765965
152Fused cervical vertebrae (HP:0002949)1.91960759
153Recurrent fungal infections (HP:0002841)1.91451795
154Abnormal blistering of the skin (HP:0008066)1.89889624
155Hand muscle atrophy (HP:0009130)1.89726968
156Abnormality of the vertebral endplates (HP:0005106)1.89468548
157Coxa vara (HP:0002812)1.89406948
158Hypergammaglobulinemia (HP:0010702)1.89309842
159Aortic dissection (HP:0002647)1.89220425
160Gingivitis (HP:0000230)1.89043944
161Abnormality of the vasculature of the conjunctiva (HP:0008054)1.88755858
162Malnutrition (HP:0004395)1.88669998
163Ankle contracture (HP:0006466)1.88215026
164Hypoplasia of the odontoid process (HP:0003311)1.87909353
165Autoimmune hemolytic anemia (HP:0001890)1.87747496
166Basal ganglia calcification (HP:0002135)1.87692994
167Ridged nail (HP:0001807)1.87418107
168Spondylolisthesis (HP:0003302)1.86659107
169Polyneuropathy (HP:0001271)1.86485767
170Abnormality of glutamine family amino acid metabolism (HP:0010902)1.85968258
171Obstructive lung disease (HP:0006536)1.85337480
172Chronic obstructive pulmonary disease (HP:0006510)1.85337480
173Glycosuria (HP:0003076)1.84632700
174Abnormality of urine glucose concentration (HP:0011016)1.84632700
175* Bone pain (HP:0002653)1.84391751
176Short femoral neck (HP:0100864)1.83344668
177Esophageal neoplasm (HP:0100751)1.82325539
178Neoplasm of head and neck (HP:0012288)1.82325539
179Disproportionate short-trunk short stature (HP:0003521)1.81901693
180Mild short stature (HP:0003502)1.81863462
181Thoracic kyphosis (HP:0002942)1.81167029
182T lymphocytopenia (HP:0005403)1.80733700
183Alopecia of scalp (HP:0002293)1.79603045
184Nail dystrophy (HP:0008404)1.77650720
185Renal tubular acidosis (HP:0001947)1.77613318
186Pathologic fracture (HP:0002756)1.74833826
187Platyspondyly (HP:0000926)1.74442841
188Thoracolumbar scoliosis (HP:0002944)1.73774156
189Nonimmune hydrops fetalis (HP:0001790)1.72264728
190Ovoid vertebral bodies (HP:0003300)1.71859436
191Abnormality of fatty-acid metabolism (HP:0004359)1.71770299
192Abnormality of the epiphysis of the femoral head (HP:0010574)1.70924663
193Absent frontal sinuses (HP:0002688)1.70430943
194Irregular vertebral endplates (HP:0003301)1.68528366
195Muscle fiber splitting (HP:0003555)1.67990438
196Protrusio acetabuli (HP:0003179)1.67950882
197Mitral valve prolapse (HP:0001634)1.67351404
198Ulnar deviation of the wrist (HP:0003049)1.67284406

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRPF4B8.86974352
2IRAK35.75857286
3NME24.76163387
4WNK43.94690985
5OXSR13.72343319
6SIK23.61350411
7MAP3K143.26018056
8PRKD33.25327945
9INSRR3.01726276
10TAOK22.96676518
11GRK72.92759932
12WNK32.88652250
13PIM22.70549501
14MOS2.54331891
15MAP3K32.44735056
16RIPK12.42755004
17TBK12.35651910
18NME12.33302335
19FRK2.31054628
20MET2.30618964
21MATK2.27610383
22STK392.13721709
23IRAK42.02240517
24IKBKB1.98634379
25TYK21.92751645
26PTK61.92674760
27DDR21.89781460
28FGR1.89718873
29MST41.79824932
30BLK1.75439334
31LATS21.74567632
32IKBKE1.66925558
33EPHA41.56887052
34RIPK41.51242440
35JAK31.45372611
36ARAF1.40942362
37TRIB31.39223503
38MAP3K131.37924752
39STK38L1.29704035
40PRKD21.26149265
41CHUK1.25671108
42PAK41.19437884
43MAP2K31.15709477
44BCKDK1.14912441
45PRKCH1.12211399
46EPHB11.09477039
47NEK21.09311897
48ABL21.08007223
49MAP3K21.07569395
50SIK11.06307475
51IRAK21.04667231
52NEK60.99646924
53ICK0.97152979
54PDK20.97141109
55ITK0.97140623
56ERN10.96675961
57PTK20.94512589
58ZAP700.94485579
59STK100.94373883
60SGK4940.94201144
61SGK2230.94201144
62MAP4K10.94144835
63CLK10.92363095
64TTN0.89441387
65MAPK150.88429864
66TESK20.86822221
67EPHA20.86619490
68PIK3CG0.85607541
69MKNK20.84729612
70JAK10.84257269
71LATS10.83861441
72MAP3K50.81330463
73WNK10.80787709
74ADRBK20.80141069
75ERBB30.77948990
76MAP3K90.74845500
77MAP3K70.74022096
78CDC42BPA0.72691367
79CSF1R0.71490295
80MAP3K100.71486319
81NTRK10.71265214
82IRAK10.71226564
83GSK3A0.71179463
84NEK90.69234276
85BCR0.66065626
86SIK30.64772634
87PASK0.64539044
88MAP3K80.62080207
89LYN0.60739946
90PTK2B0.59692611
91TYRO30.59337776
92MARK30.59035558
93JAK20.57607934
94CSNK1G20.56150910
95CDK120.56115160
96SMG10.55575573
97CSNK1A1L0.55439632
98CAMK1D0.53924521
99CDK60.52890491
100PDPK10.50632104
101MAP2K60.50226564
102MAP3K10.49802263
103RPS6KL10.49363688
104RPS6KC10.49363688
105ROCK20.49218143
106PIM10.48281861
107ALK0.48211988
108TESK10.48071253
109CSNK1G10.47601085
110DYRK1A0.46121045
111MST1R0.44534778
112EPHB20.44331600
113MAPK40.43865461
114KSR20.42471587
115BRAF0.42358980
116DYRK30.42288916
117MTOR0.42058062
118CDK40.41634974
119RPS6KA20.41420880
120SGK30.40961220
121PRKD10.39972837
122MKNK10.38743396
123MAPK110.38553982
124STK240.38033723
125PDGFRB0.37868566
126PRKCZ0.37669882
127TRPM70.37373707
128LRRK20.37302309
129CSNK1G30.37023354
130SYK0.36725191
131TEC0.35487322
132RPS6KA60.35300234
133CSK0.34809662
134SGK10.34677413
135LCK0.34088912
136MAP3K110.33754707
137FER0.33660378
138TXK0.32758485
139UHMK10.32128120
140PDK40.31352681
141PDK30.31352681
142ACVR1B0.30945925
143MAPKAPK20.30425098
144HIPK20.30413217
145TGFBR10.30123102
146RPS6KA10.29271908
147LIMK10.29186723
148TSSK60.29129569
149PDK10.28345376
150BMX0.26893770
151SGK20.26826735
152CSNK1E0.26761496
153CDK140.26304450
154ROCK10.26023109
155PRKG10.25815770
156FGFR20.25771958
157NTRK30.25410457
158PDGFRA0.24871805
159FGFR40.24589176
160PAK10.24350594
161BMPR20.24312888
162PAK20.24022692
163YES10.23840623
164ERBB40.23735512
165ABL10.23695402
166STK380.22888202
167GRK60.22882885
168BRD40.22874448
169TAOK10.22732586
170CDK150.22712752
171TGFBR20.22516987
172FGFR10.22132995
173SRC0.21818546

Predicted pathways (KEGG)

RankGene SetZ-score
1Pentose and glucuronate interconversions_Homo sapiens_hsa000403.16989807
2Toll-like receptor signaling pathway_Homo sapiens_hsa046203.15825766
3Butanoate metabolism_Homo sapiens_hsa006503.12308594
4Maturity onset diabetes of the young_Homo sapiens_hsa049502.92062109
5Sulfur metabolism_Homo sapiens_hsa009202.89362279
6Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.69946555
7NF-kappa B signaling pathway_Homo sapiens_hsa040642.59348635
8TNF signaling pathway_Homo sapiens_hsa046682.54669504
9Fatty acid degradation_Homo sapiens_hsa000712.47909316
10Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.46165619
11Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.45992762
12Osteoclast differentiation_Homo sapiens_hsa043802.44989751
13RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.39765201
14Malaria_Homo sapiens_hsa051442.33958451
15Allograft rejection_Homo sapiens_hsa053302.33642511
16Leishmaniasis_Homo sapiens_hsa051402.31691911
17Fatty acid metabolism_Homo sapiens_hsa012122.25200086
18Pertussis_Homo sapiens_hsa051332.24848960
19Legionellosis_Homo sapiens_hsa051342.23282011
20NOD-like receptor signaling pathway_Homo sapiens_hsa046212.21157195
21Protein digestion and absorption_Homo sapiens_hsa049742.15869794
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.14056715
23African trypanosomiasis_Homo sapiens_hsa051432.11603130
24Protein export_Homo sapiens_hsa030602.07418949
25Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.01326671
26Collecting duct acid secretion_Homo sapiens_hsa049662.00449233
27Cyanoamino acid metabolism_Homo sapiens_hsa004601.95031196
28Asthma_Homo sapiens_hsa053101.93576377
29Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.92771836
30Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.89999019
31beta-Alanine metabolism_Homo sapiens_hsa004101.89369969
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.89210899
33Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.87717684
34* Tuberculosis_Homo sapiens_hsa051521.86304333
35ECM-receptor interaction_Homo sapiens_hsa045121.84795498
36Vibrio cholerae infection_Homo sapiens_hsa051101.78428342
37Propanoate metabolism_Homo sapiens_hsa006401.78270568
38Intestinal immune network for IgA production_Homo sapiens_hsa046721.77703032
39Influenza A_Homo sapiens_hsa051641.75606196
40Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.74554511
41Arginine and proline metabolism_Homo sapiens_hsa003301.73934733
42Staphylococcus aureus infection_Homo sapiens_hsa051501.72044414
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.71551368
44Salmonella infection_Homo sapiens_hsa051321.69546105
45Toxoplasmosis_Homo sapiens_hsa051451.68246391
46Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.67627954
47Insulin secretion_Homo sapiens_hsa049111.62212319
48Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.60455838
49Graft-versus-host disease_Homo sapiens_hsa053321.57525976
50Vitamin digestion and absorption_Homo sapiens_hsa049771.55524417
51Sphingolipid metabolism_Homo sapiens_hsa006001.55452733
52Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.52997986
53Selenocompound metabolism_Homo sapiens_hsa004501.48581470
54Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.48041607
55Autoimmune thyroid disease_Homo sapiens_hsa053201.45758035
56Measles_Homo sapiens_hsa051621.41167459
57Hepatitis C_Homo sapiens_hsa051601.30758671
58Jak-STAT signaling pathway_Homo sapiens_hsa046301.29277927
59Type I diabetes mellitus_Homo sapiens_hsa049401.28751554
60Herpes simplex infection_Homo sapiens_hsa051681.28745418
61Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.28193946
62Hematopoietic cell lineage_Homo sapiens_hsa046401.26615681
63Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.25559770
64Tryptophan metabolism_Homo sapiens_hsa003801.21638315
65Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.21540448
66Shigellosis_Homo sapiens_hsa051311.20503643
67Starch and sucrose metabolism_Homo sapiens_hsa005001.19888984
68Hepatitis B_Homo sapiens_hsa051611.14937513
69Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.13847894
70Phenylalanine metabolism_Homo sapiens_hsa003601.13301834
71Lysine degradation_Homo sapiens_hsa003101.13081548
72Histidine metabolism_Homo sapiens_hsa003401.12280331
73Phagosome_Homo sapiens_hsa041451.10061624
74Carbohydrate digestion and absorption_Homo sapiens_hsa049731.08326318
75Apoptosis_Homo sapiens_hsa042101.07779317
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.06590150
77Mineral absorption_Homo sapiens_hsa049781.06325852
78Acute myeloid leukemia_Homo sapiens_hsa052211.03433149
79Bile secretion_Homo sapiens_hsa049761.02205975
80B cell receptor signaling pathway_Homo sapiens_hsa046621.01826000
81Chemokine signaling pathway_Homo sapiens_hsa040621.01749112
82Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.01745437
83Thyroid hormone synthesis_Homo sapiens_hsa049180.98563821
84Antigen processing and presentation_Homo sapiens_hsa046120.97840263
85Lysosome_Homo sapiens_hsa041420.95534551
86Folate biosynthesis_Homo sapiens_hsa007900.95391314
87Viral myocarditis_Homo sapiens_hsa054160.91570906
88AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.89741316
89PPAR signaling pathway_Homo sapiens_hsa033200.86731565
90Galactose metabolism_Homo sapiens_hsa000520.80385362
91Fructose and mannose metabolism_Homo sapiens_hsa000510.80348858
92Glucagon signaling pathway_Homo sapiens_hsa049220.79823908
93Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.79675951
94VEGF signaling pathway_Homo sapiens_hsa043700.79452621
95Arginine biosynthesis_Homo sapiens_hsa002200.78919671
96Pyruvate metabolism_Homo sapiens_hsa006200.78652784
97Steroid hormone biosynthesis_Homo sapiens_hsa001400.78581771
98Epstein-Barr virus infection_Homo sapiens_hsa051690.76092249
99Prolactin signaling pathway_Homo sapiens_hsa049170.75112803
100Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72537251
101Focal adhesion_Homo sapiens_hsa045100.71870846
102Rheumatoid arthritis_Homo sapiens_hsa053230.71779959
103Other glycan degradation_Homo sapiens_hsa005110.71353223
104TGF-beta signaling pathway_Homo sapiens_hsa043500.70162546
105Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.69146862
106Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.68371388
107Synaptic vesicle cycle_Homo sapiens_hsa047210.68206060
108Type II diabetes mellitus_Homo sapiens_hsa049300.67365175
109T cell receptor signaling pathway_Homo sapiens_hsa046600.65657278
110Peroxisome_Homo sapiens_hsa041460.64066029
111Fatty acid elongation_Homo sapiens_hsa000620.63797080
112Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.63136053
113Nitrogen metabolism_Homo sapiens_hsa009100.62091569
114Carbon metabolism_Homo sapiens_hsa012000.61551572
115Chronic myeloid leukemia_Homo sapiens_hsa052200.61128254
116Small cell lung cancer_Homo sapiens_hsa052220.52444063
117Gastric acid secretion_Homo sapiens_hsa049710.52415748
118Biosynthesis of amino acids_Homo sapiens_hsa012300.51539319
119GABAergic synapse_Homo sapiens_hsa047270.50984393
120Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.49430281
121Primary immunodeficiency_Homo sapiens_hsa053400.49267960
122Proteoglycans in cancer_Homo sapiens_hsa052050.48991734
123Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.48652162
124Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.47479604
125Pancreatic cancer_Homo sapiens_hsa052120.45333042
126Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.44469998
127HTLV-I infection_Homo sapiens_hsa051660.44417034
128PI3K-Akt signaling pathway_Homo sapiens_hsa041510.44030297
129Sphingolipid signaling pathway_Homo sapiens_hsa040710.43150948
130Insulin resistance_Homo sapiens_hsa049310.42636645
131Amoebiasis_Homo sapiens_hsa051460.42515080
132Neurotrophin signaling pathway_Homo sapiens_hsa047220.42215003
133Glutathione metabolism_Homo sapiens_hsa004800.41955863
134Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.40925606
135Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.40863261
136Pentose phosphate pathway_Homo sapiens_hsa000300.40424775
137Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.39329091
138Glycerolipid metabolism_Homo sapiens_hsa005610.39205462
139Viral carcinogenesis_Homo sapiens_hsa052030.39100955
140Dilated cardiomyopathy_Homo sapiens_hsa054140.38955583
141Glycosaminoglycan degradation_Homo sapiens_hsa005310.38891113
142Amphetamine addiction_Homo sapiens_hsa050310.38504940
143Renal cell carcinoma_Homo sapiens_hsa052110.37886856
144HIF-1 signaling pathway_Homo sapiens_hsa040660.37211526
145Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37039934
146Bladder cancer_Homo sapiens_hsa052190.36117314
147Notch signaling pathway_Homo sapiens_hsa043300.35897156
148Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.35803526
149Complement and coagulation cascades_Homo sapiens_hsa046100.34826815
150Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33779095
151Dorso-ventral axis formation_Homo sapiens_hsa043200.31985251
152Adipocytokine signaling pathway_Homo sapiens_hsa049200.31904451
153Chemical carcinogenesis_Homo sapiens_hsa052040.31656558
154Circadian entrainment_Homo sapiens_hsa047130.31369525
155Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.31365016
156Tight junction_Homo sapiens_hsa045300.31356861
157Prion diseases_Homo sapiens_hsa050200.31139938
158* Steroid biosynthesis_Homo sapiens_hsa001000.30510222
159cGMP-PKG signaling pathway_Homo sapiens_hsa040220.30336473
160Vitamin B6 metabolism_Homo sapiens_hsa007500.30181546
161Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.29462315
162Hippo signaling pathway_Homo sapiens_hsa043900.28442189
163* Metabolic pathways_Homo sapiens_hsa011000.28026138
164Inositol phosphate metabolism_Homo sapiens_hsa005620.27434184
165Tyrosine metabolism_Homo sapiens_hsa003500.27373295
166Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.26095548
167Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.25974461
168Central carbon metabolism in cancer_Homo sapiens_hsa052300.25518814
169MicroRNAs in cancer_Homo sapiens_hsa052060.24213233
170Fatty acid biosynthesis_Homo sapiens_hsa000610.23014763
171Leukocyte transendothelial migration_Homo sapiens_hsa046700.22992471
172Endocytosis_Homo sapiens_hsa041440.22466039
173Systemic lupus erythematosus_Homo sapiens_hsa053220.19570120
174ErbB signaling pathway_Homo sapiens_hsa040120.18853665

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