CSN1S2AP

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 locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of endothelial cell differentiation (GO:0045601)9.06541006
2secretion by tissue (GO:0032941)8.72222301
3regulation of sequestering of triglyceride (GO:0010889)8.37131108
4negative regulation of execution phase of apoptosis (GO:1900118)8.36021578
5response to phenylpropanoid (GO:0080184)8.10848259
6intestinal cholesterol absorption (GO:0030299)7.95994494
7cholesterol catabolic process (GO:0006707)7.93591418
8sterol catabolic process (GO:0016127)7.93591418
9body fluid secretion (GO:0007589)7.36357162
10regulation of phospholipid biosynthetic process (GO:0071071)6.73127200
11mammary gland epithelial cell differentiation (GO:0060644)6.54000070
12valine metabolic process (GO:0006573)6.36754345
13negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)6.25340847
14phospholipid homeostasis (GO:0055091)6.24704767
15positive regulation of lipid storage (GO:0010884)6.23319459
16ectoderm development (GO:0007398)6.15590463
17intestinal absorption (GO:0050892)5.58972850
18negative regulation of endothelial cell proliferation (GO:0001937)5.32951935
19ceramide catabolic process (GO:0046514)5.13870415
20negative regulation of protein kinase B signaling (GO:0051898)4.99816704
21positive regulation of osteoblast proliferation (GO:0033690)4.72463366
22mitochondrial calcium ion transport (GO:0006851)4.67163019
23acyl-CoA biosynthetic process (GO:0071616)4.39838085
24thioester biosynthetic process (GO:0035384)4.39838085
25acetyl-CoA metabolic process (GO:0006084)4.32063940
26regulation of apoptotic process involved in morphogenesis (GO:1902337)4.25792858
27lipid storage (GO:0019915)4.21878245
28regulation of apoptotic cell clearance (GO:2000425)4.19292489
29oligosaccharide metabolic process (GO:0009311)4.11315239
30GDP-mannose metabolic process (GO:0019673)4.02818676
31negative regulation of lipid catabolic process (GO:0050995)3.99022058
32fatty-acyl-CoA biosynthetic process (GO:0046949)3.98440181
33CDP-diacylglycerol biosynthetic process (GO:0016024)3.98318090
34glutathione biosynthetic process (GO:0006750)3.93792286
35response to host immune response (GO:0052572)3.92314877
36response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.92314877
37long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.79941471
38regulation of toll-like receptor 4 signaling pathway (GO:0034143)3.74654611
39nonribosomal peptide biosynthetic process (GO:0019184)3.71396515
40regulation of interleukin-13 production (GO:0032656)3.70164240
41tricarboxylic acid metabolic process (GO:0072350)3.67774643
42negative regulation of epithelial cell differentiation (GO:0030857)3.67088940
43positive regulation of reactive oxygen species metabolic process (GO:2000379)3.65872671
44steroid catabolic process (GO:0006706)3.63223319
45CDP-diacylglycerol metabolic process (GO:0046341)3.61953458
46nucleotide-sugar biosynthetic process (GO:0009226)3.55053850
47triglyceride biosynthetic process (GO:0019432)3.51263266
48response to host (GO:0075136)3.46514813
49response to host defenses (GO:0052200)3.46514813
50response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.46514813
51regulation of clathrin-mediated endocytosis (GO:2000369)3.42982088
52acrosome assembly (GO:0001675)3.40623367
53regulation of execution phase of apoptosis (GO:1900117)3.35677037
54cellular carbohydrate biosynthetic process (GO:0034637)3.33352511
55galactose metabolic process (GO:0006012)3.32902558
56regulation of fatty acid oxidation (GO:0046320)3.31467199
57acylglycerol biosynthetic process (GO:0046463)3.31356721
58neutral lipid biosynthetic process (GO:0046460)3.31356721
59positive regulation of toll-like receptor signaling pathway (GO:0034123)3.26819414
60phagocytosis, recognition (GO:0006910)3.23110131
61branched-chain amino acid metabolic process (GO:0009081)3.22399887
62branched-chain amino acid catabolic process (GO:0009083)3.18917102
63temperature homeostasis (GO:0001659)3.18176750
64purine nucleobase metabolic process (GO:0006144)3.09474646
65sphingolipid catabolic process (GO:0030149)3.07505042
66positive regulation of chemokine secretion (GO:0090197)3.06415636
67mitochondrion distribution (GO:0048311)3.05246316
68negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)3.04282262
69regulation of lipid storage (GO:0010883)2.95380741
70long-chain fatty acid transport (GO:0015909)2.95334101
71biotin metabolic process (GO:0006768)2.89561130
72regulation of interleukin-5 production (GO:0032674)2.87272907
73regulation of cholesterol storage (GO:0010885)2.84810613
74detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)2.83029036
75negative regulation of cell fate commitment (GO:0010454)2.78546247
76short-chain fatty acid metabolic process (GO:0046459)2.76213207
77membrane lipid catabolic process (GO:0046466)2.73420133
78regulation of chemokine secretion (GO:0090196)2.73008956
79long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.66952221
80peptide biosynthetic process (GO:0043043)2.64694235
81pantothenate metabolic process (GO:0015939)2.63896466
82angiogenesis involved in wound healing (GO:0060055)2.55089660
83coenzyme A metabolic process (GO:0015936)2.53193348
84regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)2.52614705
85fatty-acyl-CoA metabolic process (GO:0035337)2.50891338
86detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.50052678
87ADP metabolic process (GO:0046031)2.46006439
88nucleoside diphosphate biosynthetic process (GO:0009133)2.43968793
89negative regulation of leukocyte migration (GO:0002686)2.42671456
90digestive system process (GO:0022600)2.42595765
91detection of molecule of bacterial origin (GO:0032490)2.38836478
92ethanol oxidation (GO:0006069)2.38075517
93regulation of vascular endothelial growth factor signaling pathway (GO:1900746)19.8957468
94regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)17.2685231
95positive regulation of p38MAPK cascade (GO:1900745)16.3501018
96nucleobase catabolic process (GO:0046113)13.5503378
97oligosaccharide biosynthetic process (GO:0009312)13.2358865
98lactation (GO:0007595)10.9683068
99regulation of p38MAPK cascade (GO:1900744)10.7531418
100regulation of vasculogenesis (GO:2001212)10.4935877

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse8.69091927
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.86332979
3CDX2_19796622_ChIP-Seq_MESCs_Mouse5.76367230
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.40358621
5ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.31393427
6IRF8_21731497_ChIP-ChIP_J774_Mouse3.15760883
7ESR1_21235772_ChIP-Seq_MCF-7_Human2.53605386
8CLOCK_20551151_ChIP-Seq_293T_Human2.39825731
9TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.26342330
10PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.16165333
11ESR1_15608294_ChIP-ChIP_MCF-7_Human2.15752478
12RXR_22108803_ChIP-Seq_LS180_Human2.11328438
13NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.06432449
14SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.99831283
15LXR_22158963_ChIP-Seq_LIVER_Mouse1.98001523
16TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.94562004
17EGR1_23403033_ChIP-Seq_LIVER_Mouse1.86775408
18FLI1_21867929_ChIP-Seq_CD8_Mouse1.85873823
19TBX20_22328084_ChIP-Seq_HEART_Mouse1.69069357
20TBX20_22080862_ChIP-Seq_HEART_Mouse1.69069357
21POU3F2_20337985_ChIP-ChIP_501MEL_Human1.68049798
22ESR2_21235772_ChIP-Seq_MCF-7_Human1.67350364
23SRY_22984422_ChIP-ChIP_TESTIS_Rat1.65483011
24GATA4_25053715_ChIP-Seq_YYC3_Human1.59217665
25HTT_18923047_ChIP-ChIP_STHdh_Human1.56188044
26CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.52739574
27RXR_22158963_ChIP-Seq_LIVER_Mouse1.51639944
28NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.46560575
29FOXA1_25552417_ChIP-Seq_VCAP_Human1.46279051
30PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.43483503
31PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.39992551
32STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.38757525
33MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.38325497
34SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.38108173
35CTCF_26484167_Chip-Seq_Bcells_Mouse1.32195335
36STAT1_20625510_ChIP-Seq_HELA_Human1.30768952
37FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.30719189
38TCF3_18692474_ChIP-Seq_MEFs_Mouse1.28969697
39SOX9_24532713_ChIP-Seq_HFSC_Mouse1.27927980
40SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.26898794
41LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.24226658
42ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.22819639
43ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.22653907
44IRF8_27001747_Chip-Seq_BMDM_Mouse1.22110095
45Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.20428547
46PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.19411918
47RUNX1_27457419_Chip-Seq_LIVER_Mouse1.19346961
48LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse1.19212346
49KAP1_22055183_ChIP-Seq_ESCs_Mouse1.18460202
50PPARA_22158963_ChIP-Seq_LIVER_Mouse1.17601152
51MYB_21317192_ChIP-Seq_ERMYB_Mouse1.17226542
52STAT3_1855785_ChIP-Seq_MESCs_Mouse1.12570583
53PU.1_20513432_ChIP-Seq_Bcells_Mouse1.11440968
54SOX2_27498859_Chip-Seq_STOMACH_Mouse1.11050872
55ERG_21242973_ChIP-ChIP_JURKAT_Human1.10387399
56TP63_23658742_ChIP-Seq_EP156T_Human1.06350496
57JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.04533758
58LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04168470
59NFYA_21822215_ChIP-Seq_K562_Human1.03949806
60TDRD3_21172665_ChIP-Seq_MCF-7_Human1.03289011
61STAT1_17558387_ChIP-Seq_HELA_Human1.02944001
62PU1_27457419_Chip-Seq_LIVER_Mouse1.01392019
63TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00197411
64STAT3_18555785_Chip-Seq_ESCs_Mouse1.00152626
65TP53_18474530_ChIP-ChIP_U2OS_Human1.00114437
66ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.98559417
67POU5F1_16518401_ChIP-PET_MESCs_Mouse0.98067305
68SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.96697323
69ERG_20517297_ChIP-Seq_VCAP_Human0.96603096
70CBP_21632823_ChIP-Seq_H3396_Human0.96185553
71NFIB_24661679_ChIP-Seq_LUNG_Mouse0.95842767
72NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95070928
73SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.93640400
74PU_27001747_Chip-Seq_BMDM_Mouse0.93176025
75CBX2_22325352_ChIP-Seq_293T-Rex_Human0.92795353
76STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.91959487
77SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.90697701
78SOX2_20726797_ChIP-Seq_SW620_Human0.89531841
79FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.88713981
80ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.87928731
81EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.87900068
82RACK7_27058665_Chip-Seq_MCF-7_Human0.87439333
83AR_21572438_ChIP-Seq_LNCaP_Human0.86560672
84GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.86423551
85ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.86041746
86TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.86026036
87FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.84937086
88PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.84044397
89SOX2_18555785_Chip-Seq_ESCs_Mouse0.83929262
90FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.83392608
91RBPJ_21746931_ChIP-Seq_IB4_Human0.83098950
92SMC1_22415368_ChIP-Seq_MEFs_Mouse0.81565254
93TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.81318109
94NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.79961397
95FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.79656686
96BRD4_27068464_Chip-Seq_AML-cells_Mouse0.79279558
97ETV1_20927104_ChIP-Seq_GIST48_Human0.79053407
98ZNF217_24962896_ChIP-Seq_MCF-7_Human0.78103772
99ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.76879910
100GATA3_21867929_ChIP-Seq_TH1_Mouse0.76619306

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000627_abnormal_mammary_gland5.64656675
2MP0003718_maternal_effect4.74130445
3MP0004130_abnormal_muscle_cell3.55835046
4MP0002254_reproductive_system_inflammat2.98233049
5MP0001666_abnormal_nutrient_absorption2.95506006
6MP0005083_abnormal_biliary_tract2.87642025
7MP0001881_abnormal_mammary_gland16.5911500
8MP0003959_abnormal_lean_body1.90071170
9MP0003936_abnormal_reproductive_system1.88449903
10MP0004147_increased_porphyrin_level1.81739914
11MP0003011_delayed_dark_adaptation1.79673176
12MP0005395_other_phenotype1.71476675
13MP0004043_abnormal_pH_regulation1.65125037
14MP0005085_abnormal_gallbladder_physiolo1.64793356
15MP0005410_abnormal_fertilization1.53360734
16MP0004019_abnormal_vitamin_homeostasis1.46710519
17MP0005645_abnormal_hypothalamus_physiol1.44115263
18MP0005636_abnormal_mineral_homeostasis1.32795130
19MP0010234_abnormal_vibrissa_follicle1.32093400
20MP0002118_abnormal_lipid_homeostasis1.19475116
21MP0003300_gastrointestinal_ulcer1.18314105
22MP0000678_abnormal_parathyroid_gland1.16991956
23MP0005452_abnormal_adipose_tissue1.05410261
24MP0008004_abnormal_stomach_pH1.04893642
25MP0005332_abnormal_amino_acid1.01139835
26MP0005360_urolithiasis0.93408319
27MP0009764_decreased_sensitivity_to0.88940537
28MP0005058_abnormal_lysosome_morphology0.87593989
29MP0005448_abnormal_energy_balance0.84600025
30MP0002078_abnormal_glucose_homeostasis0.81723657
31MP0001849_ear_inflammation0.81041578
32MP0003252_abnormal_bile_duct0.76934254
33MP0002971_abnormal_brown_adipose0.74016003
34MP0009765_abnormal_xenobiotic_induced0.73629754
35MP0002009_preneoplasia0.72153068
36MP0004924_abnormal_behavior0.66869536
37MP0005386_behavior/neurological_phenoty0.66869536
38MP0000371_diluted_coat_color0.66533042
39MP0002896_abnormal_bone_mineralization0.66071694
40MP0009643_abnormal_urine_homeostasis0.64444686
41MP0005535_abnormal_body_temperature0.63516333
42MP0001727_abnormal_embryo_implantation0.63122025
43MP0001765_abnormal_ion_homeostasis0.61699874
44MP0003566_abnormal_cell_adhesion0.58908897
45MP0000490_abnormal_crypts_of0.57450220
46MP0005220_abnormal_exocrine_pancreas0.56934208
47MP0000003_abnormal_adipose_tissue0.56621236
48MP0000377_abnormal_hair_follicle0.56523438
49MP0000613_abnormal_salivary_gland0.56176862
50MP0001664_abnormal_digestion0.54559239
51MP0003172_abnormal_lysosome_physiology0.53421896
52MP0002098_abnormal_vibrissa_morphology0.51540757
53MP0001984_abnormal_olfaction0.50504445
54MP0005365_abnormal_bile_salt0.49233671
55MP0003195_calcinosis0.48191472
56MP0008770_decreased_survivor_rate0.47568693
57MP0003953_abnormal_hormone_level0.47163899
58MP0005584_abnormal_enzyme/coenzyme_acti0.46478968
59MP0005334_abnormal_fat_pad0.45370413
60MP0002970_abnormal_white_adipose0.42950412
61MP0008260_abnormal_autophagy0.41994578
62MP0009763_increased_sensitivity_to0.41848059
63MP0002135_abnormal_kidney_morphology0.38987277
64MP0000569_abnormal_digit_pigmentation0.38481651
65MP0000858_altered_metastatic_potential0.38374345
66MP0002148_abnormal_hypersensitivity_rea0.38347360
67MP0000609_abnormal_liver_physiology0.38207488
68MP0010352_gastrointestinal_tract_polyps0.36678416
69MP0009642_abnormal_blood_homeostasis0.36150147
70MP0000759_abnormal_skeletal_muscle0.36048107
71MP0001544_abnormal_cardiovascular_syste0.35489861
72MP0005385_cardiovascular_system_phenoty0.35489861
73MP0004858_abnormal_nervous_system0.34435601
74MP0002693_abnormal_pancreas_physiology0.34425848
75MP0009379_abnormal_foot_pigmentation0.34180713
76MP0001764_abnormal_homeostasis0.33636377
77MP0001177_atelectasis0.33568896
78MP0003690_abnormal_glial_cell0.32513799
79MP0001756_abnormal_urination0.31901906
80MP0010329_abnormal_lipoprotein_level0.30481581
81MP0002089_abnormal_postnatal_growth/wei0.27520327
82MP0000639_abnormal_adrenal_gland0.27357056
83MP0002796_impaired_skin_barrier0.27252116
84MP0004264_abnormal_extraembryonic_tissu0.25804884
85MP0003638_abnormal_response/metabolism_0.24680140
86MP0009785_altered_susceptibility_to0.24087011
87MP0005174_abnormal_tail_pigmentation0.22495877
88MP0003699_abnormal_female_reproductive0.21949776
89MP0008874_decreased_physiological_sensi0.21943004
90MP0003950_abnormal_plasma_membrane0.20491902
91MP0008789_abnormal_olfactory_epithelium0.20405217
92MP0000470_abnormal_stomach_morphology0.20271131
93MP0005646_abnormal_pituitary_gland0.19312746
94MP0004782_abnormal_surfactant_physiolog0.19089182
95MP0000367_abnormal_coat/_hair0.18895702
96MP0000343_altered_response_to0.18841910
97MP0006036_abnormal_mitochondrial_physio0.18599023
98MP0000537_abnormal_urethra_morphology0.18514344
99MP0002084_abnormal_developmental_patter0.17863123
100MP0005501_abnormal_skin_physiology0.17726768

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of nucleobase metabolism (HP:0010932)8.68969500
2Hyperactive renin-angiotensin system (HP:0000841)6.66134904
3Decreased circulating renin level (HP:0003351)6.44090618
4Renal salt wasting (HP:0000127)5.82540242
5Tubulointerstitial nephritis (HP:0001970)4.97752301
6Gout (HP:0001997)4.69359390
7Elevated circulating parathyroid hormone (PTH) level (HP:0003165)4.66868667
8Hypokalemic alkalosis (HP:0001949)4.30948730
9Thin bony cortex (HP:0002753)4.17419578
10Hyperlipoproteinemia (HP:0010980)4.10888732
11Chronic bronchitis (HP:0004469)4.06815100
12Nephrolithiasis (HP:0000787)4.05534155
13Dysmetric saccades (HP:0000641)4.04690135
14Hydronephrosis (HP:0000126)3.96679172
15Hyperkalemia (HP:0002153)3.82931969
16Abnormality of calcium-phosphate metabolism (HP:0100530)3.78338029
17Epidermoid cyst (HP:0200040)3.75297757
18Abnormality of the costochondral junction (HP:0000919)3.64176879
19Hyperaldosteronism (HP:0000859)3.62111661
20Metaphyseal irregularity (HP:0003025)3.21555915
21Myocardial infarction (HP:0001658)3.20173543
22Action tremor (HP:0002345)3.20108079
23Symptomatic seizures (HP:0011145)3.19082545
24Genetic anticipation (HP:0003743)3.10508306
25Skin nodule (HP:0200036)3.06299571
26Hyponatremia (HP:0002902)3.01050582
27Tubular atrophy (HP:0000092)2.95175516
28Abnormality of renin-angiotensin system (HP:0000847)2.93921314
29Hypotension (HP:0002615)2.93636355
30Abnormal tarsal ossification (HP:0008369)2.85158345
31Xanthomatosis (HP:0000991)2.72536799
32Abnormality of chloride homeostasis (HP:0011422)2.71169987
33Flat acetabular roof (HP:0003180)2.63586999
34Tubulointerstitial fibrosis (HP:0005576)2.60430773
35Nausea (HP:0002018)2.57881711
36Slow saccadic eye movements (HP:0000514)2.55466112
37Delayed epiphyseal ossification (HP:0002663)2.51804307
38Enlarged epiphyses (HP:0010580)2.51054095
39Loss of speech (HP:0002371)2.47860806
40Hyperglycinemia (HP:0002154)2.47607786
41Rickets (HP:0002748)2.46300762
42Hyperglycinuria (HP:0003108)2.45178317
43Postural tremor (HP:0002174)2.44535284
44Abnormality of sodium homeostasis (HP:0010931)2.41832052
45Widely patent fontanelles and sutures (HP:0004492)2.35778460
46Progressive cerebellar ataxia (HP:0002073)2.32712338
47Increased purine levels (HP:0004368)2.28930326
48Hyperuricemia (HP:0002149)2.28930326
49Intrahepatic cholestasis (HP:0001406)2.21453558
50Hyperparathyroidism (HP:0000843)2.19391721
51Limb ataxia (HP:0002070)2.14901319
52Alkalosis (HP:0001948)2.14886924
53Adrenal overactivity (HP:0002717)2.13620811
54Metabolic acidosis (HP:0001942)2.10373630
55Abnormality of serine family amino acid metabolism (HP:0010894)2.09982774
56Abnormality of glycine metabolism (HP:0010895)2.09982774
57Prostate neoplasm (HP:0100787)2.09220721
58Protuberant abdomen (HP:0001538)2.04264195
59Abnormality of transition element cation homeostasis (HP:0011030)2.03691841
60Hypercholesterolemia (HP:0003124)2.02986110
61Optic neuritis (HP:0100653)2.02974314
62Retrobulbar optic neuritis (HP:0100654)2.02974314
63Abnormal epiphyseal ossification (HP:0010656)2.01557707
64Abnormality of purine metabolism (HP:0004352)12.8066844
65Nephritis (HP:0000123)10.5875594
66Azoospermia (HP:0000027)1.99938640
67Postural instability (HP:0002172)1.95212910
68Abnormality of the renal cortex (HP:0011035)1.94548818
69Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.92609767
70Abnormality of renal excretion (HP:0011036)1.90867378
71Hypokalemia (HP:0002900)1.90203412
72Congenital sensorineural hearing impairment (HP:0008527)1.88631126
73Hypophosphatemia (HP:0002148)1.86461580
74Ketosis (HP:0001946)1.86414608
75Flat occiput (HP:0005469)1.83110762
76Dysostosis multiplex (HP:0000943)1.82627361
77Orchitis (HP:0100796)1.81793726
78Elevated alkaline phosphatase (HP:0003155)1.79871349
79Ketoacidosis (HP:0001993)1.79241321
80Glomerulonephritis (HP:0000099)1.78400976
81Abnormality of saccadic eye movements (HP:0000570)1.78211264
82Abnormality of fatty-acid metabolism (HP:0004359)1.78168680
83Glomerulosclerosis (HP:0000096)1.75174676
84Urinary bladder sphincter dysfunction (HP:0002839)1.74580107
85Pancreatitis (HP:0001733)1.73133329
86Gaze-evoked nystagmus (HP:0000640)1.68696394
87Epiphyseal stippling (HP:0010655)1.67714464
88Neurodegeneration (HP:0002180)1.67608026
89Paraparesis (HP:0002385)1.67335035
90Abnormality of the periventricular white matter (HP:0002518)1.66259144
91Primary adrenal insufficiency (HP:0008207)1.62148487
92Dehydration (HP:0001944)1.61120536
93Posterior subcapsular cataract (HP:0007787)1.61045806
94Spastic tetraparesis (HP:0001285)1.59004391
95Abnormal enzyme/coenzyme activity (HP:0012379)1.58598240
96Hepatosplenomegaly (HP:0001433)1.58593484
97Congenital glaucoma (HP:0001087)1.54155135
98Asymmetric septal hypertrophy (HP:0001670)1.53087296
99Abnormality of alkaline phosphatase activity (HP:0004379)1.52703182
100Abnormal auditory evoked potentials (HP:0006958)1.52500316

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK194.23570084
2EPHB13.70455614
3SIK13.45240729
4BCKDK3.44605603
5TRIB33.29467453
6EPHA33.24050757
7ZAP703.21691555
8PKN23.09670126
9MAP2K62.91393044
10ICK2.72531989
11NME22.54759267
12PTK62.30799763
13OXSR12.27742659
14CSNK1A12.20698623
15ARAF2.13807296
16EEF2K2.07019199
17JAK31.99101852
18TGFBR21.90510235
19IGF1R1.89715413
20STK381.86609169
21TESK11.76630114
22MAP3K91.61309714
23PIK3CG1.54810563
24BMPR21.46436990
25PINK11.45350246
26STK38L1.43670948
27PRKAA21.37836119
28IRAK11.30510645
29PDGFRB1.24526922
30FRK1.20982226
31JAK21.19800114
32RET1.19728589
33BTK1.18778464
34MTOR1.16123408
35LRRK21.15691150
36SCYL21.11768080
37MOS1.10103478
38BRAF1.09814186
39KSR21.08531957
40FER0.99022786
41PTK20.93271304
42PDPK10.92552607
43NLK0.87052630
44CHUK0.85867440
45MAP3K60.83419655
46MAP3K130.82838214
47STK160.78620280
48RPS6KB10.78539133
49PDK10.78509244
50MAPKAPK50.71032035
51FGFR40.67852511
52TAOK30.67784924
53CSNK2A20.67413520
54CAMK2D0.65243171
55PIM10.61161201
56STK30.61053153
57GSK3A0.61008803
58PRKCD0.57316118
59ALK0.56016130
60PRKAA10.54799614
61PRKCG0.54247724
62MAP3K10.53535200
63TESK20.53441424
64CAMK2G0.49635258
65GRK60.49226074
66TNK20.48907908
67SGK30.47993943
68CAMK2B0.47973471
69RIPK40.46983945
70MAPKAPK30.46573616
71IRAK40.44641343
72MAP2K10.44495790
73MAP2K20.43699154
74LIMK10.43240673
75FGFR30.41454983
76TBK10.38643296
77LMTK20.38555280
78JAK10.37867229
79ERN10.36997302
80GRK70.36543498
81IRAK20.36331830
82GRK10.35226002
83EIF2AK20.35071264
84EGFR0.34259057
85BMPR1B0.33973416
86ILK0.33677182
87TAOK20.32904262
88IRAK30.31658228
89ACVR1B0.31335362
90DYRK20.30598255
91EIF2AK10.30433500
92SGK2230.30217178
93SGK4940.30217178
94TAOK10.29359398
95SMG10.28036882
96MAPK110.24814760
97SGK20.24321479
98CDK50.24148795
99IKBKE0.23944783
100BCR0.22923350

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000616.37072889
2Galactose metabolism_Homo sapiens_hsa000523.25370956
3Steroid biosynthesis_Homo sapiens_hsa001002.01413476
4Caffeine metabolism_Homo sapiens_hsa0023213.9293909
5Prolactin signaling pathway_Homo sapiens_hsa049171.78631682
6Cyanoamino acid metabolism_Homo sapiens_hsa004601.56164715
7Nitrogen metabolism_Homo sapiens_hsa009101.46482885
8Drug metabolism - other enzymes_Homo sapiens_hsa009831.28179526
9Fat digestion and absorption_Homo sapiens_hsa049751.26503443
10Propanoate metabolism_Homo sapiens_hsa006401.21038430
11Glycerolipid metabolism_Homo sapiens_hsa005611.17829958
12Peroxisome_Homo sapiens_hsa041461.09937278
13Primary bile acid biosynthesis_Homo sapiens_hsa001201.00904168
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.84568732
15PPAR signaling pathway_Homo sapiens_hsa033200.83720624
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.78300338
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.76567742
182-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.76077591
19Pyruvate metabolism_Homo sapiens_hsa006200.72709043
20Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.71318617
21Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63813638
22beta-Alanine metabolism_Homo sapiens_hsa004100.63315873
23Histidine metabolism_Homo sapiens_hsa003400.61903912
24Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.59660632
25alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.51384233
26Ether lipid metabolism_Homo sapiens_hsa005650.51345471
27Fatty acid metabolism_Homo sapiens_hsa012120.44860013
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.43306478
29Starch and sucrose metabolism_Homo sapiens_hsa005000.38986921
30Fructose and mannose metabolism_Homo sapiens_hsa000510.32209023
31Pancreatic secretion_Homo sapiens_hsa049720.31903538
32Carbon metabolism_Homo sapiens_hsa012000.30213790
33Purine metabolism_Homo sapiens_hsa002300.29353832
34Fatty acid degradation_Homo sapiens_hsa000710.28966734
35Arginine and proline metabolism_Homo sapiens_hsa003300.28656384
36Pentose phosphate pathway_Homo sapiens_hsa000300.28313426
37Metabolic pathways_Homo sapiens_hsa011000.25604887
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.25556033
39Carbohydrate digestion and absorption_Homo sapiens_hsa049730.25528030
40Linoleic acid metabolism_Homo sapiens_hsa005910.21847476
41Glycerophospholipid metabolism_Homo sapiens_hsa005640.21837961
42Biosynthesis of amino acids_Homo sapiens_hsa012300.21786754
43Butanoate metabolism_Homo sapiens_hsa006500.21616976
44Sulfur metabolism_Homo sapiens_hsa009200.21080739
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.20764772
46Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.18752807
47Maturity onset diabetes of the young_Homo sapiens_hsa049500.18440066
48Salivary secretion_Homo sapiens_hsa049700.17565594
49SNARE interactions in vesicular transport_Homo sapiens_hsa041300.16130022
50Arginine biosynthesis_Homo sapiens_hsa002200.16053280
51Sulfur relay system_Homo sapiens_hsa041220.15625340
52Glutathione metabolism_Homo sapiens_hsa004800.15521537
53Tryptophan metabolism_Homo sapiens_hsa003800.15465193
54AMPK signaling pathway_Homo sapiens_hsa041520.14520188
55Pertussis_Homo sapiens_hsa051330.14039974
56One carbon pool by folate_Homo sapiens_hsa006700.12126443
57Pentose and glucuronate interconversions_Homo sapiens_hsa000400.11904224
58Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.11087551
59Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.11010565
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.10881116
61Hepatitis C_Homo sapiens_hsa051600.10365065
62Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.09634957
63Vibrio cholerae infection_Homo sapiens_hsa051100.08522752
64Arachidonic acid metabolism_Homo sapiens_hsa005900.06291637
65Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.06066597
66Folate biosynthesis_Homo sapiens_hsa007900.06065309
67N-Glycan biosynthesis_Homo sapiens_hsa005100.05821521
68Vitamin B6 metabolism_Homo sapiens_hsa007500.05596209
69Insulin resistance_Homo sapiens_hsa049310.05375790
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.05118310
71Ovarian steroidogenesis_Homo sapiens_hsa049130.05017020
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.04978843
73Cysteine and methionine metabolism_Homo sapiens_hsa002700.04765616
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.03488790
75Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.03410461
76Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.03060091
77Lysosome_Homo sapiens_hsa041420.02799248
78Fatty acid elongation_Homo sapiens_hsa000620.02307099
79Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.01896658
80Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.01015939
81Acute myeloid leukemia_Homo sapiens_hsa052210.00533838
82VEGF signaling pathway_Homo sapiens_hsa04370-0.0816501
83Complement and coagulation cascades_Homo sapiens_hsa04610-0.0807687
84Choline metabolism in cancer_Homo sapiens_hsa05231-0.0695004
85Estrogen signaling pathway_Homo sapiens_hsa04915-0.0653153
86mTOR signaling pathway_Homo sapiens_hsa04150-0.0643335
87Steroid hormone biosynthesis_Homo sapiens_hsa00140-0.0635013
88Leukocyte transendothelial migration_Homo sapiens_hsa04670-0.0543506
89Gastric acid secretion_Homo sapiens_hsa04971-0.0538946
90Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.0474583
91Tight junction_Homo sapiens_hsa04530-0.0451172
92Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0428585
93Endocytosis_Homo sapiens_hsa04144-0.0412616
94Endometrial cancer_Homo sapiens_hsa05213-0.0401052
95Cholinergic synapse_Homo sapiens_hsa04725-0.0372117
96GnRH signaling pathway_Homo sapiens_hsa04912-0.0315363
97Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860-0.0109374
98Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0074524
99Insulin signaling pathway_Homo sapiens_hsa04910-0.0044091
100Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0006282

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