NUCB2

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 protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1maintenance of protein localization in endoplasmic reticulum (GO:0035437)9.61749827
2protein retention in ER lumen (GO:0006621)8.80606999
3exocrine pancreas development (GO:0031017)7.81805736
4COPII vesicle coating (GO:0048208)6.73086134
5axonemal dynein complex assembly (GO:0070286)6.70506992
6signal peptide processing (GO:0006465)6.52908215
7activation of signaling protein activity involved in unfolded protein response (GO:0006987)6.50658396
8retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)6.42762424
9ER overload response (GO:0006983)6.19037600
10positive regulation of nuclease activity (GO:0032075)6.17758979
11cilium or flagellum-dependent cell motility (GO:0001539)5.98918257
12protein maturation by protein folding (GO:0022417)5.88183109
13cilium movement (GO:0003341)5.67287517
14endoplasmic reticulum unfolded protein response (GO:0030968)5.60801925
15regulation of nuclease activity (GO:0032069)5.60734157
16cellular response to unfolded protein (GO:0034620)5.50514636
17epithelial cilium movement (GO:0003351)5.47462416
18regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022355.38621900
19sequestering of metal ion (GO:0051238)5.29939552
20ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)5.24167809
21cellular response to topologically incorrect protein (GO:0035967)5.23945455
22ER-nucleus signaling pathway (GO:0006984)5.22266753
23vesicle coating (GO:0006901)5.19011639
24intestinal cholesterol absorption (GO:0030299)5.18154948
25epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.05589893
26axoneme assembly (GO:0035082)4.94375245
27response to endoplasmic reticulum stress (GO:0034976)4.91178384
28endocrine pancreas development (GO:0031018)4.89270710
29protein N-linked glycosylation via asparagine (GO:0018279)4.72144291
30peptidyl-asparagine modification (GO:0018196)4.67962652
31digestion (GO:0007586)4.58897782
32left/right axis specification (GO:0070986)4.55311633
33peptide hormone processing (GO:0016486)4.54693047
34response to unfolded protein (GO:0006986)4.38408763
35protein N-linked glycosylation (GO:0006487)4.30740566
36intestinal epithelial cell development (GO:0060576)4.28185308
37positive regulation of histone H3-K4 methylation (GO:0051571)4.26727153
38centriole replication (GO:0007099)4.19962021
39response to topologically incorrect protein (GO:0035966)4.19546831
40UDP-N-acetylglucosamine metabolic process (GO:0006047)4.13188951
41transcytosis (GO:0045056)4.12004965
42intraciliary transport (GO:0042073)4.10122864
43deoxyribonucleoside monophosphate metabolic process (GO:0009162)4.09630789
44regulation of ER to Golgi vesicle-mediated transport (GO:0060628)4.02715434
45intra-Golgi vesicle-mediated transport (GO:0006891)4.02475315
46peptidyl-proline hydroxylation (GO:0019511)4.02428042
47disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.99137767
48killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.99137767
49glandular epithelial cell differentiation (GO:0002067)3.93360150
50regulation of type B pancreatic cell apoptotic process (GO:2000674)3.90906830
51cellular ketone body metabolic process (GO:0046950)3.84778654
52ER to Golgi vesicle-mediated transport (GO:0006888)3.82566463
53peptide catabolic process (GO:0043171)3.82371539
54motile cilium assembly (GO:0044458)3.77493459
55centriole assembly (GO:0098534)3.68971766
56Golgi organization (GO:0007030)3.65430396
57type B pancreatic cell development (GO:0003323)3.64327113
58mitochondrial calcium ion transport (GO:0006851)3.61707401
59regulation of cilium movement (GO:0003352)3.59539303
60zinc ion transport (GO:0006829)3.59472651
61columnar/cuboidal epithelial cell development (GO:0002066)3.54649717
62negative regulation of growth of symbiont in host (GO:0044130)3.52182822
63negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.52182822
64modulation of growth of symbiont involved in interaction with host (GO:0044144)3.52182822
65regulation of growth of symbiont in host (GO:0044126)3.52182822
66nucleotide-sugar biosynthetic process (GO:0009226)3.50588268
67neutrophil mediated immunity (GO:0002446)3.43818890
68protein localization to Golgi apparatus (GO:0034067)3.41272924
69cell redox homeostasis (GO:0045454)3.39423078
70ketone body metabolic process (GO:1902224)3.39099821
714-hydroxyproline metabolic process (GO:0019471)3.38936831
72GDP-mannose metabolic process (GO:0019673)3.38716855
73L-fucose metabolic process (GO:0042354)3.38411498
74L-fucose catabolic process (GO:0042355)3.38411498
75fucose catabolic process (GO:0019317)3.38411498
76left/right pattern formation (GO:0060972)3.34284972
77maintenance of protein localization in organelle (GO:0072595)3.32903205
78cilium organization (GO:0044782)3.29719086
79mannosylation (GO:0097502)3.23256171
80pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.23197224
81mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.21432450
82mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.19763861
83cilium assembly (GO:0042384)3.19092586
84positive regulation of granulocyte differentiation (GO:0030854)3.18064491
85protein hydroxylation (GO:0018126)3.16746474
86protein complex biogenesis (GO:0070271)3.16645487
87glandular epithelial cell development (GO:0002068)3.16312933
88hydrogen peroxide catabolic process (GO:0042744)3.15517941
89valine metabolic process (GO:0006573)3.15006541
90protein targeting to Golgi (GO:0000042)3.14646755
91cell wall macromolecule catabolic process (GO:0016998)3.12135505
92negative regulation of glycogen biosynthetic process (GO:0045719)3.10341221
93insulin secretion (GO:0030073)3.04162276
94deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.03053370
95positive regulation of insulin secretion (GO:0032024)3.02097429
96protein localization to cilium (GO:0061512)3.02023232
97carnitine transmembrane transport (GO:1902603)2.99501674
98intestinal absorption (GO:0050892)2.98222071
99energy coupled proton transport, down electrochemical gradient (GO:0015985)2.96608220
100ATP synthesis coupled proton transport (GO:0015986)2.96608220
101pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.96413911
102preassembly of GPI anchor in ER membrane (GO:0016254)2.95424821
103glycolipid catabolic process (GO:0019377)2.95268086
104disruption of cells of other organism (GO:0044364)2.94979561
105killing of cells of other organism (GO:0031640)2.94979561
106nucleotide-sugar metabolic process (GO:0009225)2.94848313
107cytochrome complex assembly (GO:0017004)2.94816603
108proline biosynthetic process (GO:0006561)2.94010275
109aldehyde catabolic process (GO:0046185)2.93706111
110deoxyribonucleotide catabolic process (GO:0009264)2.93639942
111Golgi vesicle transport (GO:0048193)2.93443493
112deoxyribose phosphate catabolic process (GO:0046386)2.92900392
113mitochondrial respiratory chain complex assembly (GO:0033108)2.92009260
114respiratory chain complex IV assembly (GO:0008535)2.90297559
115carnitine transport (GO:0015879)2.89951325
116amino-acid betaine transport (GO:0015838)2.89951325
117C-terminal protein lipidation (GO:0006501)2.89858096
118positive regulation of growth hormone secretion (GO:0060124)2.88430358
119nucleoside diphosphate catabolic process (GO:0009134)2.86796307
120GPI anchor biosynthetic process (GO:0006506)2.85996299
121electron transport chain (GO:0022900)2.84771597
122establishment of protein localization to Golgi (GO:0072600)2.83677596
123toxin metabolic process (GO:0009404)2.82841647
124seminiferous tubule development (GO:0072520)2.82233716
125retrograde transport, vesicle recycling within Golgi (GO:0000301)2.80902317
126autophagic vacuole fusion (GO:0000046)2.80281945
127cilium morphogenesis (GO:0060271)2.80145596
128cellular response to vitamin D (GO:0071305)2.79975147
129respiratory electron transport chain (GO:0022904)2.79255284
130keratan sulfate catabolic process (GO:0042340)2.79001626
131branched-chain amino acid catabolic process (GO:0009083)2.78706924
132glutathione derivative metabolic process (GO:1901685)2.78449922
133glutathione derivative biosynthetic process (GO:1901687)2.78449922
134regulation of insulin secretion (GO:0050796)2.77887159
135organelle membrane fusion (GO:0090174)2.77293451
136adenosine metabolic process (GO:0046085)2.75374341
137pyrimidine-containing compound transmembrane transport (GO:0072531)2.75327600
138ceramide catabolic process (GO:0046514)2.74392238
139cellular response to ATP (GO:0071318)2.73369668
140mitochondrial respiratory chain complex I assembly (GO:0032981)2.73322287
141NADH dehydrogenase complex assembly (GO:0010257)2.73322287
142mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.73322287
143cell wall macromolecule metabolic process (GO:0044036)2.72080724
144ventricular system development (GO:0021591)2.71670677
145pyrimidine nucleotide catabolic process (GO:0006244)2.70676305
146positive regulation of regulated secretory pathway (GO:1903307)2.70148270
147replication fork processing (GO:0031297)2.69594970
148deoxyribose phosphate biosynthetic process (GO:0046385)2.69288053
1492-deoxyribonucleotide biosynthetic process (GO:0009265)2.69288053
150fucose metabolic process (GO:0006004)2.69024779
151deoxyribose phosphate metabolic process (GO:0019692)2.67467783
152purine deoxyribonucleotide catabolic process (GO:0009155)2.67123168
153macroautophagy (GO:0016236)2.66094850
1542-deoxyribonucleotide metabolic process (GO:0009394)2.66071729
155mannose metabolic process (GO:0006013)2.65882147
156magnesium ion transport (GO:0015693)2.65348376
157proteasome assembly (GO:0043248)2.65057629
158innate immune response in mucosa (GO:0002227)2.61479845
159purine nucleotide salvage (GO:0032261)2.61324756
160chondrocyte development (GO:0002063)2.61079115
161angiotensin maturation (GO:0002003)2.60894635
162mitochondrion distribution (GO:0048311)2.60659497
163GPI anchor metabolic process (GO:0006505)2.59988928
164negative regulation of bone resorption (GO:0045779)2.59709625
165phosphorylated carbohydrate dephosphorylation (GO:0046838)2.59050623
166inositol phosphate dephosphorylation (GO:0046855)2.59050623
167gland morphogenesis (GO:0022612)2.58679257
168platelet dense granule organization (GO:0060155)2.56422451
169positive regulation of steroid hormone secretion (GO:2000833)2.55379593
170nonmotile primary cilium assembly (GO:0035058)2.54747743
171regulation of hexokinase activity (GO:1903299)2.54719347
172regulation of glucokinase activity (GO:0033131)2.54719347
173inositol phosphate catabolic process (GO:0071545)2.54687023
174dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.54505173
175C-terminal protein amino acid modification (GO:0018410)2.54449431
176L-alpha-amino acid transmembrane transport (GO:1902475)2.54375783
177secretion by tissue (GO:0032941)2.54360505
178aerobic respiration (GO:0009060)2.53616987
179definitive hemopoiesis (GO:0060216)2.53455669
180double-strand break repair via homologous recombination (GO:0000724)2.52696277
181GTP biosynthetic process (GO:0006183)2.51850298
182regulation of peptide hormone secretion (GO:0090276)2.51623184
183myeloid leukocyte mediated immunity (GO:0002444)2.50829235
184purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.49994541
185peptide secretion (GO:0002790)2.49719751
186membrane lipid catabolic process (GO:0046466)2.49288734
187negative regulation of glycoprotein biosynthetic process (GO:0010561)2.47789288
188peptide hormone secretion (GO:0030072)2.47477521
189regulation of peptide secretion (GO:0002791)2.46897882
190endoplasmic reticulum organization (GO:0007029)2.46684878
191pancreas development (GO:0031016)2.44007561
192positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.43771345
193cysteine metabolic process (GO:0006534)2.43602244
194macromolecule glycosylation (GO:0043413)2.43329133
195protein glycosylation (GO:0006486)2.43329133
196relaxation of cardiac muscle (GO:0055119)2.43308922
197positive regulation of peptide hormone secretion (GO:0090277)2.42942498
198COPI coating of Golgi vesicle (GO:0048205)10.9402157
199Golgi transport vesicle coating (GO:0048200)10.9402157

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse6.71987331
2GATA1_22025678_ChIP-Seq_K562_Human4.01493980
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.48934243
4ESR1_21235772_ChIP-Seq_MCF-7_Human3.22907191
5IGF1R_20145208_ChIP-Seq_DFB_Human3.05782053
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.01495774
7STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.88215366
8ELF1_17652178_ChIP-ChIP_JURKAT_Human2.84928455
9TRIM28_21343339_ChIP-Seq_HEK293_Human2.73029613
10SOX2_27498859_Chip-Seq_STOMACH_Mouse2.49635222
11EST1_17652178_ChIP-ChIP_JURKAT_Human2.46229480
12VDR_23849224_ChIP-Seq_CD4+_Human2.43560550
13* ZNF217_24962896_ChIP-Seq_MCF-7_Human2.42347465
14HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.39990419
15ELK1_19687146_ChIP-ChIP_HELA_Human2.37249737
16STAT6_21828071_ChIP-Seq_BEAS2B_Human2.35310299
17FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.31884053
18* SOX2_20726797_ChIP-Seq_SW620_Human2.22447098
19DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.21765977
20EWS_26573619_Chip-Seq_HEK293_Human2.20012179
21ESR2_21235772_ChIP-Seq_MCF-7_Human2.18911799
22VDR_22108803_ChIP-Seq_LS180_Human2.18520396
23* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human2.17956138
24E2F7_22180533_ChIP-Seq_HELA_Human2.15381402
25SRF_21415370_ChIP-Seq_HL-1_Mouse2.04260654
26FUS_26573619_Chip-Seq_HEK293_Human1.99154793
27CLOCK_20551151_ChIP-Seq_293T_Human1.98349857
28PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.97918348
29PADI4_21655091_ChIP-ChIP_MCF-7_Human1.91068151
30FOXP3_21729870_ChIP-Seq_TREG_Human1.89301871
31FLI1_27457419_Chip-Seq_LIVER_Mouse1.86089456
32JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.85630802
33GATA4_25053715_ChIP-Seq_YYC3_Human1.85199780
34ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.82072852
35FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.78968468
36CDX2_19796622_ChIP-Seq_MESCs_Mouse1.77379927
37TP63_17297297_ChIP-ChIP_HaCaT_Human1.77157537
38* AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.75281392
39ER_23166858_ChIP-Seq_MCF-7_Human1.73579810
40CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.73492625
41E2F4_17652178_ChIP-ChIP_JURKAT_Human1.70354266
42ETS1_20019798_ChIP-Seq_JURKAT_Human1.63353089
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.63277946
44MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.62803533
45TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.61210444
46RARG_19884340_ChIP-ChIP_MEFs_Mouse1.60698955
47ZFP57_27257070_Chip-Seq_ESCs_Mouse1.59581200
48IRF8_22096565_ChIP-ChIP_GC-B_Human1.54801442
49* GATA3_24758297_ChIP-Seq_MCF-7_Human1.53605714
50SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.52673890
51FOXA1_27270436_Chip-Seq_PROSTATE_Human1.50964330
52FOXA1_25329375_ChIP-Seq_VCAP_Human1.50964330
53PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.50784998
54NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.50677036
55NRF2_20460467_ChIP-Seq_MEFs_Mouse1.50677036
56E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.50290339
57EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.50087686
58ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.48704950
59FOXA1_25552417_ChIP-Seq_VCAP_Human1.47264707
60TP53_22573176_ChIP-Seq_HFKS_Human1.44333465
61PIAS1_25552417_ChIP-Seq_VCAP_Human1.43922254
62CREB1_15753290_ChIP-ChIP_HEK293T_Human1.42809461
63TAF15_26573619_Chip-Seq_HEK293_Human1.42713756
64PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.42148459
65PCGF2_27294783_Chip-Seq_ESCs_Mouse1.41337352
66EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.41000388
67HOXB4_20404135_ChIP-ChIP_EML_Mouse1.40981495
68* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.39624997
69* GATA6_25053715_ChIP-Seq_YYC3_Human1.39344239
70ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.35674433
71MYC_18940864_ChIP-ChIP_HL60_Human1.35538562
72CBP_20019798_ChIP-Seq_JUKART_Human1.34690144
73IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.34690144
74EGR1_23403033_ChIP-Seq_LIVER_Mouse1.33021681
75TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.32674364
76SCL_19346495_ChIP-Seq_HPC-7_Human1.30690882
77CJUN_26792858_Chip-Seq_BT549_Human1.28870634
78CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.28795456
79AHR_22903824_ChIP-Seq_MCF-7_Human1.28537788
80HTT_18923047_ChIP-ChIP_STHdh_Human1.27446309
81STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.26845857
82FOXO3_23340844_ChIP-Seq_DLD1_Human1.25898429
83RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.25252257
84GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25022338
85CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.24710142
86ARNT_22903824_ChIP-Seq_MCF-7_Human1.24125007
87SALL1_21062744_ChIP-ChIP_HESCs_Human1.24041433
88* RUNX1_27514584_Chip-Seq_MCF-7_Human1.21679511
89SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.21676014
90ERG_20517297_ChIP-Seq_VCAP_Human1.20656958
91P300_19829295_ChIP-Seq_ESCs_Human1.20375494
92AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18499509
93* CHD1_26751641_Chip-Seq_LNCaP_Human1.18285811
94FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.17954077
95ZNF274_21170338_ChIP-Seq_K562_Hela1.17874902
96WT1_19549856_ChIP-ChIP_CCG9911_Human1.17705470
97SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.17587350
98GATA2_21666600_ChIP-Seq_HMVEC_Human1.17356138
99FOXM1_26456572_ChIP-Seq_MCF-7_Human1.17014428
100DCP1A_22483619_ChIP-Seq_HELA_Human1.15338392
101CTBP1_25329375_ChIP-Seq_LNCAP_Human1.15316611
102TP63_23658742_ChIP-Seq_EP156T_Human1.14064482
103EP300_21415370_ChIP-Seq_HL-1_Mouse1.12500233
104Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.12427886
105KDM5A_27292631_Chip-Seq_BREAST_Human1.12272099
106GABP_19822575_ChIP-Seq_HepG2_Human1.10764817
107NFIB_24661679_ChIP-Seq_LUNG_Mouse1.10758035
108EZH2_27294783_Chip-Seq_NPCs_Mouse1.09927680
109NANOG_19829295_ChIP-Seq_ESCs_Human1.09869551
110SOX2_19829295_ChIP-Seq_ESCs_Human1.09869551
111NFE2_27457419_Chip-Seq_LIVER_Mouse1.09184923
112NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.09036863
113EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08613802
114POU3F2_20337985_ChIP-ChIP_501MEL_Human1.08594399
115* GATA3_26560356_Chip-Seq_TH2_Human1.08340583
116FOXA2_19822575_ChIP-Seq_HepG2_Human1.05688388
117NCOR_22424771_ChIP-Seq_293T_Human1.05515401
118ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.05446671
119SUZ12_27294783_Chip-Seq_NPCs_Mouse1.04956835
120P53_22387025_ChIP-Seq_ESCs_Mouse1.03720635
121ETV2_25802403_ChIP-Seq_MESCs_Mouse1.00875108
122NANOG_18555785_Chip-Seq_ESCs_Mouse1.00204671
123CRX_20693478_ChIP-Seq_RETINA_Mouse0.99011561
124CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.98841221
125TP53_18474530_ChIP-ChIP_U2OS_Human0.98538980
126CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.97652144
127TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97610498
128OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97369146
129STAT3_23295773_ChIP-Seq_U87_Human0.97178206
130TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97100778
131TCF4_22108803_ChIP-Seq_LS180_Human0.96826770
132MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.96806608
133STAT3_18555785_Chip-Seq_ESCs_Mouse0.96759660
134E2F1_18555785_Chip-Seq_ESCs_Mouse0.96547024
135BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.96361319
136PKCTHETA_26484144_Chip-Seq_BREAST_Human0.95422460
137P300_18555785_Chip-Seq_ESCs_Mouse0.94988003
138CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.94545492
139PPAR_26484153_Chip-Seq_NCI-H1993_Human0.94469383
140SOX2_18555785_Chip-Seq_ESCs_Mouse0.94366550
141SOX9_24532713_ChIP-Seq_HFSC_Mouse0.93907208
142SUZ12_18555785_Chip-Seq_ESCs_Mouse0.93186299
143CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.92645501
144PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.92400576
145BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.92216311
146FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.91986072
147SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.89547639
148SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.89547639
149FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.89398865
150CDX2_22108803_ChIP-Seq_LS180_Human0.89172871
151TBX20_22080862_ChIP-Seq_HEART_Mouse0.88231707
152TBX20_22328084_ChIP-Seq_HEART_Mouse0.88231707
153P63_26484246_Chip-Seq_KERATINOCYTES_Human0.87817000
154KLF5_25053715_ChIP-Seq_YYC3_Human0.86614310
155NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86317739
156* ELK1_22589737_ChIP-Seq_MCF10A_Human0.86277252
157TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.86058423
158CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.85477997
159SALL4_18804426_ChIP-ChIP_XEN_Mouse0.85380951
160BRD4_25478319_ChIP-Seq_HGPS_Human0.85204385
161CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.84468470
162ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.83755231
163LXR_22158963_ChIP-Seq_LIVER_Mouse0.83527939
164RXR_22108803_ChIP-Seq_LS180_Human0.82132613
165KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.81968298
166TOP2B_26459242_ChIP-Seq_MCF-7_Human0.81785313
167GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.80509194
168FOXA1_21572438_ChIP-Seq_LNCaP_Human0.76733454
169MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.76389822
170BCAT_22108803_ChIP-Seq_LS180_Human0.75667966
171CTBP2_25329375_ChIP-Seq_LNCAP_Human0.74625710
172HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.72958126
173FOXH1_21741376_ChIP-Seq_ESCs_Human0.72642680
174SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.72583844
175SMAD4_21799915_ChIP-Seq_A2780_Human0.71399394
176AR_20517297_ChIP-Seq_VCAP_Human0.71291173
177JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.69678629

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005220_abnormal_exocrine_pancreas4.49880347
2MP0010386_abnormal_urinary_bladder3.87477205
3MP0009780_abnormal_chondrocyte_physiolo3.82519324
4MP0002877_abnormal_melanocyte_morpholog3.74973087
5MP0002693_abnormal_pancreas_physiology3.71851462
6MP0001666_abnormal_nutrient_absorption3.67983393
7MP0002909_abnormal_adrenal_gland3.45838728
8MP0003183_abnormal_peptide_metabolism3.29035067
9MP0001944_abnormal_pancreas_morphology3.20906963
10MP0004264_abnormal_extraembryonic_tissu3.09513355
11MP0000013_abnormal_adipose_tissue3.02068742
12MP0005083_abnormal_biliary_tract2.89736903
13MP0005075_abnormal_melanosome_morpholog2.75502162
14MP0008875_abnormal_xenobiotic_pharmacok2.75146454
15MP0004147_increased_porphyrin_level2.69222297
16MP0003787_abnormal_imprinting2.63276729
17MP0010234_abnormal_vibrissa_follicle2.60818429
18MP0003283_abnormal_digestive_organ2.44750459
19MP0005058_abnormal_lysosome_morphology2.43127395
20MP0009697_abnormal_copulation2.33843081
21MP0004043_abnormal_pH_regulation2.31382113
22MP0008057_abnormal_DNA_replication2.22308463
23MP0008877_abnormal_DNA_methylation2.16452561
24MP0008438_abnormal_cutaneous_collagen2.15327879
25MP0002396_abnormal_hematopoietic_system2.15179761
26MP0003868_abnormal_feces_composition2.13068042
27MP0005379_endocrine/exocrine_gland_phen2.12009479
28MP0006054_spinal_hemorrhage2.06026635
29MP0002160_abnormal_reproductive_system2.05152331
30MP0003656_abnormal_erythrocyte_physiolo2.04656003
31MP0002896_abnormal_bone_mineralization2.04043911
32MP0003195_calcinosis2.00625730
33MP0003300_gastrointestinal_ulcer1.94962746
34MP0000569_abnormal_digit_pigmentation1.94424680
35MP0000678_abnormal_parathyroid_gland1.91833578
36MP0006036_abnormal_mitochondrial_physio1.89364194
37MP0005365_abnormal_bile_salt1.86708274
38MP0000003_abnormal_adipose_tissue1.84484007
39MP0003718_maternal_effect1.81414577
40MP0005084_abnormal_gallbladder_morpholo1.80263213
41MP0008058_abnormal_DNA_repair1.79656028
42MP0010094_abnormal_chromosome_stability1.77471647
43MP0003786_premature_aging1.72663284
44MP0002132_abnormal_respiratory_system1.69939632
45MP0001881_abnormal_mammary_gland1.69067323
46MP0002078_abnormal_glucose_homeostasis1.68331523
47MP0002166_altered_tumor_susceptibility1.67286672
48MP0003186_abnormal_redox_activity1.65977204
49MP0001765_abnormal_ion_homeostasis1.65391277
50MP0005174_abnormal_tail_pigmentation1.64839381
51MP0005310_abnormal_salivary_gland1.64002343
52MP0000613_abnormal_salivary_gland1.62962856
53MP0005275_abnormal_skin_tensile1.59323046
54MP0001664_abnormal_digestion1.59239474
55MP0000681_abnormal_thyroid_gland1.57032236
56MP0002876_abnormal_thyroid_physiology1.56268873
57MP0005389_reproductive_system_phenotype1.52866077
58MP0001545_abnormal_hematopoietic_system1.49800407
59MP0005397_hematopoietic_system_phenotyp1.49800407
60MP0003806_abnormal_nucleotide_metabolis1.47889091
61MP0002009_preneoplasia1.45863893
62MP0009379_abnormal_foot_pigmentation1.44756517
63MP0003252_abnormal_bile_duct1.42163216
64MP0003959_abnormal_lean_body1.42118432
65MP0006072_abnormal_retinal_apoptosis1.38579305
66MP0000372_irregular_coat_pigmentation1.35768045
67MP0001756_abnormal_urination1.33896960
68MP0001764_abnormal_homeostasis1.33162341
69MP0005646_abnormal_pituitary_gland1.29913789
70MP0005410_abnormal_fertilization1.29127354
71MP0008995_early_reproductive_senescence1.28482791
72MP0002837_dystrophic_cardiac_calcinosis1.27129142
73MP0005257_abnormal_intraocular_pressure1.27093688
74MP0002928_abnormal_bile_duct1.26537212
75MP0000538_abnormal_urinary_bladder1.26217269
76MP0000015_abnormal_ear_pigmentation1.25999686
77MP0001905_abnormal_dopamine_level1.23649555
78MP0009643_abnormal_urine_homeostasis1.22932165
79MP0000462_abnormal_digestive_system1.21575771
80MP0002006_tumorigenesis1.20473915
81MP0003172_abnormal_lysosome_physiology1.19343609
82MP0005464_abnormal_platelet_physiology1.18067180
83MP0001299_abnormal_eye_distance/1.17665716
84MP0003953_abnormal_hormone_level1.16289733
85MP0003795_abnormal_bone_structure1.15407757
86MP0002138_abnormal_hepatobiliary_system1.14839131
87MP0003121_genomic_imprinting1.13784368
88MP0001929_abnormal_gametogenesis1.12496090
89MP0002060_abnormal_skin_morphology1.12153165
90MP0002295_abnormal_pulmonary_circulatio1.11500389
91MP0001984_abnormal_olfaction1.10992517
92MP0005551_abnormal_eye_electrophysiolog1.10067866
93MP0003045_fibrosis1.09801933
94MP0004782_abnormal_surfactant_physiolog1.07889170
95MP0008004_abnormal_stomach_pH1.07888885
96MP0009046_muscle_twitch1.05461284
97MP0005076_abnormal_cell_differentiation1.05455250
98MP0002095_abnormal_skin_pigmentation1.02297337
99MP0005395_other_phenotype1.02163511
100MP0005503_abnormal_tendon_morphology1.01689634
101MP0005636_abnormal_mineral_homeostasis1.00987288
102MP0000516_abnormal_urinary_system0.99393759
103MP0005367_renal/urinary_system_phenotyp0.99393759
104MP0005645_abnormal_hypothalamus_physiol0.99110049
105MP0002653_abnormal_ependyma_morphology0.97327392
106MP0008872_abnormal_physiological_respon0.96440890
107MP0005253_abnormal_eye_physiology0.95826705
108MP0002234_abnormal_pharynx_morphology0.95814917
109MP0000427_abnormal_hair_cycle0.92773915
110MP0008007_abnormal_cellular_replicative0.92487477
111MP0001533_abnormal_skeleton_physiology0.90884325
112MP0003566_abnormal_cell_adhesion0.90699240
113MP0002163_abnormal_gland_morphology0.90650879
114MP0002090_abnormal_vision0.90183195
115MP0005266_abnormal_metabolism0.88358393
116MP0003698_abnormal_male_reproductive0.87610667
117MP0000653_abnormal_sex_gland0.87103266
118MP0005408_hypopigmentation0.86456406
119MP0001346_abnormal_lacrimal_gland0.86228917
120MP0003705_abnormal_hypodermis_morpholog0.85692268
121MP0005332_abnormal_amino_acid0.85385928
122MP0004272_abnormal_basement_membrane0.85028471
123MP0001145_abnormal_male_reproductive0.84685669
124MP0005448_abnormal_energy_balance0.84047433
125MP0008873_increased_physiological_sensi0.83042003
126MP0005376_homeostasis/metabolism_phenot0.81762559
127MP0000163_abnormal_cartilage_morphology0.81726529
128MP0003943_abnormal_hepatobiliary_system0.81422844
129MP0009384_cardiac_valve_regurgitation0.81249525
130MP0002098_abnormal_vibrissa_morphology0.81151353
131MP0000470_abnormal_stomach_morphology0.80410394
132MP0000383_abnormal_hair_follicle0.80227090
133MP0005375_adipose_tissue_phenotype0.80170924
134MP0005647_abnormal_sex_gland0.79568307
135MP0004808_abnormal_hematopoietic_stem0.78983603
136MP0004134_abnormal_chest_morphology0.78730026
137MP0004142_abnormal_muscle_tone0.78674475
138MP0000627_abnormal_mammary_gland0.78598407
139MP0001270_distended_abdomen0.78296363
140MP0005535_abnormal_body_temperature0.77696098
141MP0005085_abnormal_gallbladder_physiolo0.77252084
142MP0000358_abnormal_cell_content/0.76784621
143MP0003122_maternal_imprinting0.76624611
144MP0002638_abnormal_pupillary_reflex0.75627850
145MP0000537_abnormal_urethra_morphology0.74752534
146MP0001919_abnormal_reproductive_system0.74372422
147MP0002210_abnormal_sex_determination0.72931009
148MP0004019_abnormal_vitamin_homeostasis0.72159053
149MP0002938_white_spotting0.71982094
150MP0002115_abnormal_skeleton_extremities0.71798432
151MP0001873_stomach_inflammation0.69772794
152MP0005508_abnormal_skeleton_morphology0.69215203
153MP0005390_skeleton_phenotype0.67154768
154MP0002998_abnormal_bone_remodeling0.66456147
155MP0000230_abnormal_systemic_arterial0.66280357
156MP0008961_abnormal_basal_metabolism0.66258482
157MP0002168_other_aberrant_phenotype0.65038222
158MP0003638_abnormal_response/metabolism_0.61024842
159MP0004947_skin_inflammation0.60595330
160MP0001958_emphysema0.60092176
161MP0000631_abnormal_neuroendocrine_gland0.57808537
162MP0000534_abnormal_ureter_morphology0.57627888
163MP0005381_digestive/alimentary_phenotyp0.55630867
164MP0002933_joint_inflammation0.55103237
165MP0005334_abnormal_fat_pad0.55069889
166MP0000639_abnormal_adrenal_gland0.54986049
167MP0002277_abnormal_respiratory_mucosa0.53617106

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)6.43524690
2Abnormal respiratory motile cilium physiology (HP:0012261)5.72118101
3Abnormal respiratory epithelium morphology (HP:0012253)5.60463226
4Abnormal respiratory motile cilium morphology (HP:0005938)5.60463226
5Dynein arm defect of respiratory motile cilia (HP:0012255)5.51462461
6Absent/shortened dynein arms (HP:0200106)5.51462461
7Abnormal ciliary motility (HP:0012262)5.46393171
8Rhinitis (HP:0012384)5.36228851
9Elevated circulating parathyroid hormone (PTH) level (HP:0003165)4.76260036
10Hyperinsulinemic hypoglycemia (HP:0000825)4.48268184
11Dysostosis multiplex (HP:0000943)4.31329925
12Mucopolysacchariduria (HP:0008155)4.18905427
13Urinary glycosaminoglycan excretion (HP:0003541)4.18905427
14Vacuolated lymphocytes (HP:0001922)4.15045968
15Hypoglycemic seizures (HP:0002173)4.14136693
16Abnormality of midbrain morphology (HP:0002418)4.02885461
17Molar tooth sign on MRI (HP:0002419)4.02885461
18Symptomatic seizures (HP:0011145)4.02614220
19Chronic bronchitis (HP:0004469)3.95076260
20Abnormality of the intrinsic pathway (HP:0010989)3.89094457
21Abnormal pancreas size (HP:0012094)3.82294559
22Insulin-resistant diabetes mellitus (HP:0000831)3.81614566
23Abnormality of mucopolysaccharide metabolism (HP:0011020)3.75741408
24Abnormality of polysaccharide metabolism (HP:0011012)3.75741408
25Abnormality of glycosaminoglycan metabolism (HP:0004371)3.75741408
26Bronchiectasis (HP:0002110)3.71651970
27Pancreatic fibrosis (HP:0100732)3.66863177
28Hyperglycemia (HP:0003074)3.55862274
29Medial flaring of the eyebrow (HP:0010747)3.53202108
30Exocrine pancreatic insufficiency (HP:0001738)3.51113190
31Nephronophthisis (HP:0000090)3.45995484
32Thoracolumbar scoliosis (HP:0002944)3.43923250
33Pancreatic cysts (HP:0001737)3.38887307
34Hypoglycemic coma (HP:0001325)3.31994043
35Abnormality of endocrine pancreas physiology (HP:0012093)3.21935174
36Abnormality of the pancreatic islet cells (HP:0006476)3.21935174
37True hermaphroditism (HP:0010459)3.17070101
38Abnormality of calcium-phosphate metabolism (HP:0100530)3.13630736
39Agitation (HP:0000713)3.09317338
40Tubulointerstitial nephritis (HP:0001970)3.00954830
41Abnormality of the renal medulla (HP:0100957)2.94077846
42Abnormality of the renal cortex (HP:0011035)2.93213443
43Ketoacidosis (HP:0001993)2.91504405
44Abnormal foot bone ossification (HP:0010675)2.87437866
45Abnormal tarsal ossification (HP:0008369)2.85505374
46Congenital primary aphakia (HP:0007707)2.82429184
47Epiphyseal dysplasia (HP:0002656)2.77434919
48Cervical subluxation (HP:0003308)2.77058210
49Renal cortical cysts (HP:0000803)2.74198423
50Thrombocytosis (HP:0001894)2.69411888
51Gait imbalance (HP:0002141)2.67797045
52Congenital glaucoma (HP:0001087)2.66214593
53Mitochondrial inheritance (HP:0001427)2.65293950
54B lymphocytopenia (HP:0010976)2.63034308
55Beaking of vertebral bodies (HP:0004568)2.62508056
56Hepatic necrosis (HP:0002605)2.60853157
57Abdominal distention (HP:0003270)2.60835563
58Nephrogenic diabetes insipidus (HP:0009806)2.60352891
59Hyperphosphatemia (HP:0002905)2.59947947
60Long toe (HP:0010511)2.57449755
61Disproportionate short-trunk short stature (HP:0003521)2.55406937
62Acute lymphatic leukemia (HP:0006721)2.55331360
63Abnormality of B cell number (HP:0010975)2.55116344
643-Methylglutaconic aciduria (HP:0003535)2.54716787
65Gout (HP:0001997)2.54143608
66Large for gestational age (HP:0001520)2.52892158
67Acute necrotizing encephalopathy (HP:0006965)2.52538220
68Hyperparathyroidism (HP:0000843)2.52087278
69Abnormal protein glycosylation (HP:0012346)2.51874604
70Abnormal glycosylation (HP:0012345)2.51874604
71Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.51874604
72Abnormal protein N-linked glycosylation (HP:0012347)2.51874604
73Protuberant abdomen (HP:0001538)2.50889119
74Hepatocellular necrosis (HP:0001404)2.45287135
75Severe short stature (HP:0003510)2.43048731
76Decreased circulating renin level (HP:0003351)2.41873182
77Metaphyseal dysplasia (HP:0100255)2.41132777
78Increased CSF lactate (HP:0002490)2.40614875
79Hypoplasia of the odontoid process (HP:0003311)2.40264465
80Hypoplasia of the pons (HP:0012110)2.36670249
81Pancreatic islet-cell hyperplasia (HP:0004510)2.36232018
82Chronic sinusitis (HP:0011109)2.34781878
83Decreased subcutaneous fat (HP:0001002)2.34151135
84Lipid accumulation in hepatocytes (HP:0006561)2.32013910
85Retinal atrophy (HP:0001105)2.31751611
86Acute encephalopathy (HP:0006846)2.31680695
87Progressive macrocephaly (HP:0004481)2.30786363
88Joint stiffness (HP:0001387)2.29274799
89Hypothermia (HP:0002045)2.29043188
90Spondylolisthesis (HP:0003302)2.27794370
91Steatorrhea (HP:0002570)2.27714811
92Increased hepatocellular lipid droplets (HP:0006565)2.25564434
93Abnormal rod and cone electroretinograms (HP:0008323)2.24815316
94Irregular vertebral endplates (HP:0003301)2.24171753
95Aortic aneurysm (HP:0004942)2.22476943
96Glucose intolerance (HP:0000833)2.20842312
97Hypokalemia (HP:0002900)2.17332955
98Ketosis (HP:0001946)2.16288018
99Abnormality of the common coagulation pathway (HP:0010990)2.14649817
100Bronchitis (HP:0012387)2.12220734
101Abnormality of subcutaneous fat tissue (HP:0001001)2.11798656
102Abnormal mitochondria in muscle tissue (HP:0008316)2.11156777
103Hypoplastic labia majora (HP:0000059)2.08025493
104Male pseudohermaphroditism (HP:0000037)2.07675419
105Fat malabsorption (HP:0002630)2.07360412
106Abnormality of the prostate (HP:0008775)2.06980599
107Conjugated hyperbilirubinemia (HP:0002908)2.05847904
108Abnormality of renal resorption (HP:0011038)2.05406632
109Abnormality of the distal phalanges of the toes (HP:0010182)2.05141842
110Abnormality of the odontoid process (HP:0003310)2.05136194
111Abnormality of the pons (HP:0007361)2.05065891
112Aplastic anemia (HP:0001915)2.05029567
113Atrophic scars (HP:0001075)2.04584957
114Congenital hepatic fibrosis (HP:0002612)2.04021840
115Postaxial foot polydactyly (HP:0001830)2.03233188
116Late onset (HP:0003584)2.03212071
117Coxa valga (HP:0002673)2.02766606
118Generalized aminoaciduria (HP:0002909)2.02589403
119Abnormality of dicarboxylic acid metabolism (HP:0010995)2.02388155
120Dicarboxylic aciduria (HP:0003215)2.02388155
121Renal Fanconi syndrome (HP:0001994)2.01836125
122Abnormality of small intestinal villus morphology (HP:0011472)1.99737831
123Villous atrophy (HP:0011473)1.99737831
124Shawl scrotum (HP:0000049)1.99059454
125Aplasia/Hypoplasia of the tongue (HP:0010295)1.98604002
126Absent rod-and cone-mediated responses on ERG (HP:0007688)1.98338982
127Infertility (HP:0000789)1.98241510
128Abnormality of the heme biosynthetic pathway (HP:0010472)1.95635004
129Type I transferrin isoform profile (HP:0003642)1.94730339
130Chronic hepatic failure (HP:0100626)1.94447322
131Type I diabetes mellitus (HP:0100651)1.94269192
132Insulin resistance (HP:0000855)1.94262734
133Constricted visual fields (HP:0001133)1.93706773
134Nasal polyposis (HP:0100582)1.93298925
135Sclerocornea (HP:0000647)1.93037704
136Progressive neurologic deterioration (HP:0002344)1.92782823
137Abnormality of the ischium (HP:0003174)1.92758798
138Furrowed tongue (HP:0000221)1.91297056
139Pectus carinatum (HP:0000768)1.91217804
140Hypoplastic ischia (HP:0003175)1.90967169
141Methylmalonic acidemia (HP:0002912)1.90026634
142Abnormal biliary tract physiology (HP:0012439)1.89503511
143Bile duct proliferation (HP:0001408)1.89503511
144Hypoplasia of the uterus (HP:0000013)1.89078720
145Aneurysm (HP:0002617)1.87638837
146Autoimmune hemolytic anemia (HP:0001890)1.86864924
147Abnormality of the vertebral endplates (HP:0005106)1.84518473
148Occipital encephalocele (HP:0002085)1.84334535
149Hypoplasia of dental enamel (HP:0006297)1.81293258
150Abnormality of the labia majora (HP:0012881)1.81071990
151Interstitial pulmonary disease (HP:0006530)1.80554980
152Aplasia/hypoplasia of the uterus (HP:0008684)1.79231033
153Barrel-shaped chest (HP:0001552)1.78344744
154Severe combined immunodeficiency (HP:0004430)1.78216214
155Cerebral edema (HP:0002181)1.77504219
156Ovoid vertebral bodies (HP:0003300)1.77427267
157Poor coordination (HP:0002370)1.77365822
158Reduced antithrombin III activity (HP:0001976)1.76982550
159Abnormality of macular pigmentation (HP:0008002)1.76737003
160Papilledema (HP:0001085)1.75318346
161Thyroiditis (HP:0100646)1.74886271
162Platyspondyly (HP:0000926)1.74562300
163Genital tract atresia (HP:0001827)1.74123571
164Panhypogammaglobulinemia (HP:0003139)1.72984092
165Aortic dissection (HP:0002647)1.72339511
166Unilateral renal agenesis (HP:0000122)1.71090779
167Abnormality of purine metabolism (HP:0004352)1.70807400
168Abolished electroretinogram (ERG) (HP:0000550)1.70800775
169Abnormality of potassium homeostasis (HP:0011042)1.70146489
170Oculomotor apraxia (HP:0000657)1.69833224
171Potter facies (HP:0002009)1.69799796
172Facial shape deformation (HP:0011334)1.69799796
173Flat acetabular roof (HP:0003180)1.69314677
174Aplasia/Hypoplasia of the scapulae (HP:0006713)1.68652329
175Hypoplastic scapulae (HP:0000882)1.68652329
176Respiratory failure (HP:0002878)1.68337866
177Cystic liver disease (HP:0006706)1.67086363
178Median cleft lip (HP:0000161)1.66046308
179Mildly elevated creatine phosphokinase (HP:0008180)1.66024828
180Abnormal drinking behavior (HP:0030082)1.64277766
181Polydipsia (HP:0001959)1.64277766
182Tubulointerstitial abnormality (HP:0001969)1.62391370
183Postaxial hand polydactyly (HP:0001162)1.62288912
184Volvulus (HP:0002580)1.60325456
185Vaginal atresia (HP:0000148)1.60140918
186Recurrent sinusitis (HP:0011108)1.59766018
187Elevated erythrocyte sedimentation rate (HP:0003565)1.57536995

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK35.46181493
2AKT34.91911623
3INSRR4.59560295
4FRK4.22537925
5ERN14.03923470
6BCKDK2.91437466
7MAP3K22.71914869
8VRK22.71392788
9MAP4K22.50192785
10IRAK32.42425504
11PASK2.24426237
12EIF2AK12.24215662
13EIF2AK32.23618641
14KIT2.12068102
15MAPK152.05588809
16PRKD32.01137902
17PIK3CG1.94695344
18MST41.85893223
19VRK11.83239821
20LATS11.82728180
21MAP3K121.76187812
22MAP3K31.75178695
23HIPK21.74649823
24GRK11.62114923
25FLT31.61579921
26ADRBK21.58613467
27STK161.57958577
28MAP2K21.51968854
29TRIB31.49341815
30PLK41.44545761
31WNK41.43263941
32STK391.39613918
33TLK11.36810674
34PTK61.33538499
35MKNK11.32854400
36SCYL21.32284512
37EPHA31.30736012
38MAPK131.30098721
39MAPKAPK31.29302516
40FER1.28202935
41WNK31.27982184
42PNCK1.26423175
43PDGFRA1.25041490
44SIK11.17703810
45PIM21.15697829
46PDK21.13513946
47NTRK11.11821928
48EPHA21.10987389
49MYLK1.07561450
50CAMKK21.03531070
51MET1.02286789
52PTK21.01311793
53MAPKAPK51.00984298
54IRAK11.00181368
55MAP2K60.99142926
56TAF10.97281387
57IRAK40.97136441
58MKNK20.95443510
59NUAK10.95378638
60PINK10.91991827
61ACVR1B0.91477887
62CDC42BPA0.90179766
63MAP3K40.89254088
64CDC70.88392933
65PIK3CA0.87921848
66CAMK1G0.86018753
67ERBB30.84083643
68TESK10.82339191
69WEE10.79955785
70ZAP700.79533998
71CHEK20.77473365
72CAMK1D0.77289863
73RPS6KA20.77217333
74ZAK0.77128708
75PDGFRB0.77069594
76NEK60.75531404
77ATR0.74383644
78TRPM70.73266769
79RPS6KA50.72087362
80PAK20.71593543
81ADRBK10.68901999
82MAP3K10.68629868
83RIPK10.68406973
84CSNK1G30.67842979
85TRIM280.67811386
86ITK0.66709677
87PAK30.63201227
88PRKCH0.62217329
89JAK10.61805931
90PLK30.61395648
91ATM0.61183560
92PRKCI0.60683719
93JAK30.60592897
94MST1R0.59094340
95MAP2K40.58837303
96PRKCE0.57249391
97FES0.54621438
98BTK0.54540031
99PRKCQ0.54386875
100TNK20.53615835
101CSNK2A20.53502857
102PTK2B0.53460035
103STK38L0.53042984
104IRAK20.53033660
105CSNK1G20.52828617
106JAK20.52800944
107DDR20.52774197
108TBK10.52696343
109CDK80.51751164
110DYRK1B0.50942891
111MAP2K10.50937222
112RET0.50711379
113EPHB10.50139067
114NEK20.50035123
115PLK20.49294403
116EIF2AK20.49087395
117SYK0.47587080
118ABL20.47413631
119FGFR30.47160277
120CSNK2A10.46680491
121LRRK20.46254512
122MAP3K60.46148576
123GSK3A0.45705139
124EEF2K0.45704513
125PKN20.45163363
126NEK10.45036668
127ILK0.43901360
128CSNK1G10.43564804
129RPS6KA40.42881598
130MAP2K70.42421743
131BMPR1B0.41627989
132TGFBR20.40222056
133AURKB0.39862917
134BCR0.37643902
135CAMKK10.37557622
136ABL10.37311139
137DAPK10.37226829
138PLK10.37135930
139GRK60.36998026
140NTRK30.36481561
141KDR0.36462051
142MTOR0.35371357
143BMPR20.35132865
144PRKD20.34917867
145NLK0.34446440
146PRKD10.33848066
147RPS6KB10.33050212
148MUSK0.33003361
149DMPK0.32774058
150LYN0.32222083
151IGF1R0.31507788
152TEC0.31343102
153STK30.30002134
154RPS6KB20.29960645
155DYRK1A0.28868303
156UHMK10.28167333
157TYK20.28111242
158NME10.26403928
159CSNK1A10.25079057
160BRSK20.24915468
161TTN0.22953414
162WNK10.22723120
163EGFR0.22635662
164CAMK2D0.22483128
165OXSR10.21946755

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030606.61907545
2Maturity onset diabetes of the young_Homo sapiens_hsa049506.28030699
3Protein processing in endoplasmic reticulum_Homo sapiens_hsa041414.22203937
4Sulfur metabolism_Homo sapiens_hsa009203.68491467
5Pancreatic secretion_Homo sapiens_hsa049723.29121271
6Oxidative phosphorylation_Homo sapiens_hsa001902.89366569
7N-Glycan biosynthesis_Homo sapiens_hsa005102.62177871
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.58506719
9Homologous recombination_Homo sapiens_hsa034402.44530007
10Protein digestion and absorption_Homo sapiens_hsa049742.38954011
11Vibrio cholerae infection_Homo sapiens_hsa051102.33050522
12Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.27897930
13Parkinsons disease_Homo sapiens_hsa050122.21611749
14Other glycan degradation_Homo sapiens_hsa005112.15802124
15Fanconi anemia pathway_Homo sapiens_hsa034602.14653030
16DNA replication_Homo sapiens_hsa030302.13260476
17Huntingtons disease_Homo sapiens_hsa050162.11602622
18Lysosome_Homo sapiens_hsa041422.11086858
19Butanoate metabolism_Homo sapiens_hsa006502.03879612
20Insulin secretion_Homo sapiens_hsa049112.03723688
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.97425607
22Mismatch repair_Homo sapiens_hsa034301.96628850
23Propanoate metabolism_Homo sapiens_hsa006401.93389879
24Chemical carcinogenesis_Homo sapiens_hsa052041.86276242
25Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.81908264
26Nucleotide excision repair_Homo sapiens_hsa034201.81268963
27Proteasome_Homo sapiens_hsa030501.77411686
28Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.72298329
29Peroxisome_Homo sapiens_hsa041461.72025964
30Ribosome_Homo sapiens_hsa030101.69779164
31Glutathione metabolism_Homo sapiens_hsa004801.60257058
32Base excision repair_Homo sapiens_hsa034101.59562505
33Glycosaminoglycan degradation_Homo sapiens_hsa005311.54963148
34Fat digestion and absorption_Homo sapiens_hsa049751.52322101
35Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.45757768
36Fatty acid elongation_Homo sapiens_hsa000621.43686411
37Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.43184623
38Thyroid hormone synthesis_Homo sapiens_hsa049181.41800825
39Alzheimers disease_Homo sapiens_hsa050101.40109351
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.39758741
41RNA polymerase_Homo sapiens_hsa030201.38072853
42Pyrimidine metabolism_Homo sapiens_hsa002401.30378498
43Basal transcription factors_Homo sapiens_hsa030221.28288192
44Asthma_Homo sapiens_hsa053101.27170496
45Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.25722556
46Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.25109192
47Steroid hormone biosynthesis_Homo sapiens_hsa001401.24339433
48Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.23074456
49Carbohydrate digestion and absorption_Homo sapiens_hsa049731.23051431
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.21999346
51One carbon pool by folate_Homo sapiens_hsa006701.20357607
52Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.17759101
53Type I diabetes mellitus_Homo sapiens_hsa049401.16886406
54Purine metabolism_Homo sapiens_hsa002301.13272764
55Tryptophan metabolism_Homo sapiens_hsa003801.11810590
56Phototransduction_Homo sapiens_hsa047441.11073901
57Type II diabetes mellitus_Homo sapiens_hsa049301.10474441
58SNARE interactions in vesicular transport_Homo sapiens_hsa041301.09318027
59Folate biosynthesis_Homo sapiens_hsa007901.08814663
60Fatty acid degradation_Homo sapiens_hsa000711.08240720
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.07328614
62Renin-angiotensin system_Homo sapiens_hsa046141.05240077
63RNA degradation_Homo sapiens_hsa030181.05221313
64Non-homologous end-joining_Homo sapiens_hsa034501.03082250
65Cocaine addiction_Homo sapiens_hsa050301.01193227
66beta-Alanine metabolism_Homo sapiens_hsa004100.99286760
67Nitrogen metabolism_Homo sapiens_hsa009100.97368350
68Tyrosine metabolism_Homo sapiens_hsa003500.95875967
69Retinol metabolism_Homo sapiens_hsa008300.95314113
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.95188088
71Fatty acid metabolism_Homo sapiens_hsa012120.92376043
72Ether lipid metabolism_Homo sapiens_hsa005650.90512108
73Galactose metabolism_Homo sapiens_hsa000520.90238330
74Metabolic pathways_Homo sapiens_hsa011000.89334792
75Sphingolipid metabolism_Homo sapiens_hsa006000.89085203
76Prolactin signaling pathway_Homo sapiens_hsa049170.88350801
77Pentose and glucuronate interconversions_Homo sapiens_hsa000400.84445751
78Insulin resistance_Homo sapiens_hsa049310.82951022
79Primary bile acid biosynthesis_Homo sapiens_hsa001200.81850871
80Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.78858295
81Selenocompound metabolism_Homo sapiens_hsa004500.72369364
82Drug metabolism - other enzymes_Homo sapiens_hsa009830.72335368
83Phagosome_Homo sapiens_hsa041450.72285947
84Spliceosome_Homo sapiens_hsa030400.71767661
85Collecting duct acid secretion_Homo sapiens_hsa049660.66645598
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.66575536
87Primary immunodeficiency_Homo sapiens_hsa053400.66318585
88Amphetamine addiction_Homo sapiens_hsa050310.66019921
89Regulation of autophagy_Homo sapiens_hsa041400.65835328
90Cardiac muscle contraction_Homo sapiens_hsa042600.64264181
91Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63587708
92RNA transport_Homo sapiens_hsa030130.63092276
93Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.62870454
94Circadian rhythm_Homo sapiens_hsa047100.62746514
95Legionellosis_Homo sapiens_hsa051340.62709662
96Taste transduction_Homo sapiens_hsa047420.61138676
97Prostate cancer_Homo sapiens_hsa052150.60337556
98ECM-receptor interaction_Homo sapiens_hsa045120.59637384
99Mineral absorption_Homo sapiens_hsa049780.59453045
100Estrogen signaling pathway_Homo sapiens_hsa049150.59448339
101Starch and sucrose metabolism_Homo sapiens_hsa005000.59316123
102Aldosterone synthesis and secretion_Homo sapiens_hsa049250.58140671
103Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.57857431
104Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.56489503
105Phenylalanine metabolism_Homo sapiens_hsa003600.54013283
106Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53381237
107Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.52722232
108Prion diseases_Homo sapiens_hsa050200.52614096
109Glycerolipid metabolism_Homo sapiens_hsa005610.52141724
110Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.51692313
111Vascular smooth muscle contraction_Homo sapiens_hsa042700.51452271
112Histidine metabolism_Homo sapiens_hsa003400.50988059
113Olfactory transduction_Homo sapiens_hsa047400.48973565
114Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.48100727
115Transcriptional misregulation in cancer_Homo sapiens_hsa052020.45999393
116Focal adhesion_Homo sapiens_hsa045100.44688425
117Rheumatoid arthritis_Homo sapiens_hsa053230.44637923
118Adherens junction_Homo sapiens_hsa045200.44574490
119Gastric acid secretion_Homo sapiens_hsa049710.42880168
120Renin secretion_Homo sapiens_hsa049240.42342664
121Hematopoietic cell lineage_Homo sapiens_hsa046400.42132956
122Glucagon signaling pathway_Homo sapiens_hsa049220.41989649
123Inositol phosphate metabolism_Homo sapiens_hsa005620.41188164
124Amoebiasis_Homo sapiens_hsa051460.41113808
125Antigen processing and presentation_Homo sapiens_hsa046120.40824207
126Arachidonic acid metabolism_Homo sapiens_hsa005900.39918940
127Glycerophospholipid metabolism_Homo sapiens_hsa005640.39842315
128ABC transporters_Homo sapiens_hsa020100.39341529
129mTOR signaling pathway_Homo sapiens_hsa041500.37280135
130Longevity regulating pathway - mammal_Homo sapiens_hsa042110.37031770
131Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.36061111
132Dopaminergic synapse_Homo sapiens_hsa047280.35957909
133Linoleic acid metabolism_Homo sapiens_hsa005910.35506872
134alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.35154033
135Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.35017285
136Cholinergic synapse_Homo sapiens_hsa047250.34460047
137cGMP-PKG signaling pathway_Homo sapiens_hsa040220.33514202
138Phosphatidylinositol signaling system_Homo sapiens_hsa040700.32775700
139Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31658216
140Bladder cancer_Homo sapiens_hsa052190.31639795
141Toxoplasmosis_Homo sapiens_hsa051450.29433934
142Tuberculosis_Homo sapiens_hsa051520.29256230
143Endometrial cancer_Homo sapiens_hsa052130.29151526
144Pertussis_Homo sapiens_hsa051330.28907099
145Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.28442070
146Insulin signaling pathway_Homo sapiens_hsa049100.27682044
147Salivary secretion_Homo sapiens_hsa049700.27548726
148p53 signaling pathway_Homo sapiens_hsa041150.27270487
149Long-term potentiation_Homo sapiens_hsa047200.26396464
150Thyroid cancer_Homo sapiens_hsa052160.26367253
151Neurotrophin signaling pathway_Homo sapiens_hsa047220.25927251
152Cysteine and methionine metabolism_Homo sapiens_hsa002700.24742970
153Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.24684992
154Pyruvate metabolism_Homo sapiens_hsa006200.23904005
155Vitamin digestion and absorption_Homo sapiens_hsa049770.23531571
156Hepatitis C_Homo sapiens_hsa051600.23288307
157Pancreatic cancer_Homo sapiens_hsa052120.22355975
158Tight junction_Homo sapiens_hsa045300.22322313
159Influenza A_Homo sapiens_hsa051640.22040498
160Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.21510590
161Caffeine metabolism_Homo sapiens_hsa002320.20786635
162Systemic lupus erythematosus_Homo sapiens_hsa053220.20364127
163Proteoglycans in cancer_Homo sapiens_hsa052050.19952361
164Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.19778122
165Synaptic vesicle cycle_Homo sapiens_hsa047210.19769234
166AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.19712005
167AMPK signaling pathway_Homo sapiens_hsa041520.18855480
168PI3K-Akt signaling pathway_Homo sapiens_hsa041510.18378020

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