INS-IGF2

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 includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1omega-hydroxylase P450 pathway (GO:0097267)7.22834844
2exogenous drug catabolic process (GO:0042738)6.59074149
3epoxygenase P450 pathway (GO:0019373)6.50015866
4complement activation, alternative pathway (GO:0006957)6.42294467
5drug catabolic process (GO:0042737)6.35948350
6regulation of protein activation cascade (GO:2000257)6.00581684
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.90019222
8L-phenylalanine catabolic process (GO:0006559)5.90019222
9regulation of fibrinolysis (GO:0051917)5.82099843
10regulation of complement activation (GO:0030449)5.82037685
11positive regulation of glycolytic process (GO:0045821)5.53644292
12protein carboxylation (GO:0018214)5.38135841
13peptidyl-glutamic acid carboxylation (GO:0017187)5.38135841
14fatty acid homeostasis (GO:0055089)5.32990852
15L-phenylalanine metabolic process (GO:0006558)5.22666006
16erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.22666006
17glyoxylate metabolic process (GO:0046487)5.06290420
18negative regulation of fibrinolysis (GO:0051918)4.95148158
19cellular ketone body metabolic process (GO:0046950)4.77972435
20negative regulation of gluconeogenesis (GO:0045721)4.74532948
21negative regulation of acute inflammatory response (GO:0002674)4.67597366
22ethanol oxidation (GO:0006069)4.64053680
23positive regulation of respiratory burst (GO:0060267)4.63533904
24oxidative demethylation (GO:0070989)4.63519777
25imidazole-containing compound metabolic process (GO:0052803)4.54108406
26blood coagulation, intrinsic pathway (GO:0007597)4.51651814
27regulation of glucokinase activity (GO:0033131)4.49066713
28regulation of hexokinase activity (GO:1903299)4.49066713
29endocrine pancreas development (GO:0031018)4.45638930
30phenylpropanoid metabolic process (GO:0009698)4.39685672
31aromatic amino acid family catabolic process (GO:0009074)4.38195057
32acute-phase response (GO:0006953)4.34772571
33drug metabolic process (GO:0017144)4.31637565
34fibrinolysis (GO:0042730)4.28956613
35ketone body metabolic process (GO:1902224)4.18610813
36regulation of type B pancreatic cell apoptotic process (GO:2000674)4.15879450
37protein activation cascade (GO:0072376)4.14299620
38urea metabolic process (GO:0019627)4.12166648
39serine family amino acid catabolic process (GO:0009071)4.04675532
40complement activation, classical pathway (GO:0006958)4.03435113
41nitric oxide mediated signal transduction (GO:0007263)4.01232220
42bile acid biosynthetic process (GO:0006699)4.00895240
43positive regulation of glycogen biosynthetic process (GO:0045725)3.98011238
44triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.95251250
45acylglycerol homeostasis (GO:0055090)3.94007291
46triglyceride homeostasis (GO:0070328)3.94007291
47complement activation (GO:0006956)3.89897667
48negative regulation of protein oligomerization (GO:0032460)3.88826647
49positive regulation of insulin receptor signaling pathway (GO:0046628)3.81840431
50negative regulation of cholesterol transport (GO:0032375)3.81006448
51negative regulation of sterol transport (GO:0032372)3.81006448
52nitrogen cycle metabolic process (GO:0071941)3.76392919
53negative regulation of glycogen metabolic process (GO:0070874)3.72005414
54regulation of triglyceride catabolic process (GO:0010896)3.69652896
55negative regulation of protein activation cascade (GO:2000258)3.68459268
56regulation of plasminogen activation (GO:0010755)3.66889525
57opsonization (GO:0008228)3.65102175
58S-adenosylmethionine metabolic process (GO:0046500)3.61819368
59ethanol metabolic process (GO:0006067)3.61000940
60high-density lipoprotein particle remodeling (GO:0034375)3.60540598
61regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.58762081
62urea cycle (GO:0000050)3.49297844
63regulation of humoral immune response (GO:0002920)3.47270743
64positive regulation of glycogen metabolic process (GO:0070875)3.45813075
65glutamate metabolic process (GO:0006536)3.45106185
66exocrine pancreas development (GO:0031017)3.43217353
67cellular glucuronidation (GO:0052695)3.37342995
68positive regulation of peptide hormone secretion (GO:0090277)3.34619115
69protein-lipid complex remodeling (GO:0034368)3.34564419
70macromolecular complex remodeling (GO:0034367)3.34564419
71plasma lipoprotein particle remodeling (GO:0034369)3.34564419
72lactate metabolic process (GO:0006089)3.34021516
73bile acid metabolic process (GO:0008206)3.30712569
74negative regulation of hemostasis (GO:1900047)3.30667318
75negative regulation of blood coagulation (GO:0030195)3.30667318
76cholesterol efflux (GO:0033344)3.26244147
77uronic acid metabolic process (GO:0006063)3.24869779
78glucuronate metabolic process (GO:0019585)3.24869779
79regulation of acute inflammatory response (GO:0002673)3.23622567
80positive regulation of peptide secretion (GO:0002793)3.21177048
81reverse cholesterol transport (GO:0043691)3.19391632
82negative regulation of complement activation (GO:0045916)3.18526111
83xenobiotic catabolic process (GO:0042178)3.18069016
84tyrosine metabolic process (GO:0006570)3.14967182
85acute inflammatory response (GO:0002526)3.13954149
86negative regulation of wound healing (GO:0061045)3.09245966
87regulation of cholesterol esterification (GO:0010872)3.07106331
88alpha-amino acid catabolic process (GO:1901606)3.06612815
89negative regulation of coagulation (GO:0050819)3.06378217
90positive regulation of protein autophosphorylation (GO:0031954)3.05555896
91intestinal cholesterol absorption (GO:0030299)3.04584001
92indolalkylamine catabolic process (GO:0046218)3.03240243
93tryptophan catabolic process (GO:0006569)3.03240243
94indole-containing compound catabolic process (GO:0042436)3.03240243
95L-alpha-amino acid transmembrane transport (GO:1902475)3.01695394
96cytolysis (GO:0019835)2.99505578
97fructose metabolic process (GO:0006000)2.99284447
98negative regulation of hormone biosynthetic process (GO:0032353)2.97942654
99regulation of glycolytic process (GO:0006110)2.96763793
100positive regulation of cellular response to insulin stimulus (GO:1900078)2.95287906

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.85610124
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.77104087
3EGR1_23403033_ChIP-Seq_LIVER_Mouse3.86392752
4RXR_22158963_ChIP-Seq_LIVER_Mouse3.68758282
5LXR_22158963_ChIP-Seq_LIVER_Mouse3.33610124
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.30816691
7PPARA_22158963_ChIP-Seq_LIVER_Mouse2.95932364
8NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.71364895
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.62016588
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.50702733
11CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.37352399
12BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.22199209
13POU3F2_20337985_ChIP-ChIP_501MEL_Human2.08649356
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.91803939
15HTT_18923047_ChIP-ChIP_STHdh_Human1.91537791
16GBX2_23144817_ChIP-Seq_PC3_Human1.88368831
17E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.86641779
18BCAT_22108803_ChIP-Seq_LS180_Human1.69317722
19PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.64621511
20EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.61147342
21PIAS1_25552417_ChIP-Seq_VCAP_Human1.52995282
22CDX2_19796622_ChIP-Seq_MESCs_Mouse1.51709091
23FOXA2_19822575_ChIP-Seq_HepG2_Human1.45473114
24AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.38527578
25NFE2_27457419_Chip-Seq_LIVER_Mouse1.35628667
26ZFP57_27257070_Chip-Seq_ESCs_Mouse1.32694948
27SMAD4_21799915_ChIP-Seq_A2780_Human1.31136961
28ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.31008604
29RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.27988388
30CDX2_22108803_ChIP-Seq_LS180_Human1.27224547
31AR_25329375_ChIP-Seq_VCAP_Human1.27166493
32NANOG_18555785_Chip-Seq_ESCs_Mouse1.24039292
33EZH2_27294783_Chip-Seq_NPCs_Mouse1.21472910
34TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.20988917
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.18662012
36SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17794263
37PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.17661913
38ER_23166858_ChIP-Seq_MCF-7_Human1.17312767
39SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.16547337
40CBP_20019798_ChIP-Seq_JUKART_Human1.16212093
41IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.16212093
42HNF4A_19822575_ChIP-Seq_HepG2_Human1.16204023
43HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.15775757
44CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.15434169
45SUZ12_27294783_Chip-Seq_NPCs_Mouse1.14676086
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.13978959
47STAT3_23295773_ChIP-Seq_U87_Human1.13704199
48AR_20517297_ChIP-Seq_VCAP_Human1.11964124
49CBP_21632823_ChIP-Seq_H3396_Human1.11562067
50RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09493825
51AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.09244014
52CTBP1_25329375_ChIP-Seq_LNCAP_Human1.09143401
53ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08913796
54FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.08678869
55TCF4_23295773_ChIP-Seq_U87_Human1.08546754
56EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08199833
57P300_19829295_ChIP-Seq_ESCs_Human1.07903371
58ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.07634826
59IGF1R_20145208_ChIP-Seq_DFB_Human1.07519302
60UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06892273
61CRX_20693478_ChIP-Seq_RETINA_Mouse1.06786373
62NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05839562
63P53_22387025_ChIP-Seq_ESCs_Mouse1.05198994
64CMYC_18555785_Chip-Seq_ESCs_Mouse1.04394320
65TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.04226409
66ZNF274_21170338_ChIP-Seq_K562_Hela1.04011268
67STAT3_18555785_Chip-Seq_ESCs_Mouse1.02177946
68BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.01569121
69SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.00949935
70ETV2_25802403_ChIP-Seq_MESCs_Mouse1.00873571
71KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00074325
72RUNX2_22187159_ChIP-Seq_PCA_Human0.99988625
73EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.99769337
74FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.99619549
75TCF4_22108803_ChIP-Seq_LS180_Human0.99066355
76REST_21632747_ChIP-Seq_MESCs_Mouse0.98600472
77SMAD4_21741376_ChIP-Seq_EPCs_Human0.98076046
78CTCF_18555785_Chip-Seq_ESCs_Mouse0.97492889
79SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.97253731
80PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.96955107
81FLI1_27457419_Chip-Seq_LIVER_Mouse0.96735638
82GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96714135
83NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96640572
84BMI1_23680149_ChIP-Seq_NPCS_Mouse0.95286501
85NANOG_19829295_ChIP-Seq_ESCs_Human0.94779189
86SOX2_19829295_ChIP-Seq_ESCs_Human0.94779189
87PU1_27457419_Chip-Seq_LIVER_Mouse0.94753552
88OCT4_21477851_ChIP-Seq_ESCs_Mouse0.94740561
89SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.94409701
90E2F1_18555785_Chip-Seq_ESCs_Mouse0.94389267
91CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94034714
92SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.93876381
93SMAD3_21741376_ChIP-Seq_EPCs_Human0.93719053
94P300_18555785_Chip-Seq_ESCs_Mouse0.93717369
95FOXA1_25552417_ChIP-Seq_VCAP_Human0.93054224
96ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.92318435
97AHR_22903824_ChIP-Seq_MCF-7_Human0.92287905
98SUZ12_18555785_Chip-Seq_ESCs_Mouse0.91314760
99PHF8_20622853_ChIP-Seq_HELA_Human0.91247035
100VDR_22108803_ChIP-Seq_LS180_Human0.90966761

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis7.78463349
2MP0002139_abnormal_hepatobiliary_system5.97734133
3MP0005365_abnormal_bile_salt3.92291336
4MP0003283_abnormal_digestive_organ3.82816116
5MP0005085_abnormal_gallbladder_physiolo3.64167626
6MP0008875_abnormal_xenobiotic_pharmacok3.44620386
7MP0005360_urolithiasis3.17928615
8MP0003252_abnormal_bile_duct2.97415493
9MP0002909_abnormal_adrenal_gland2.96617176
10MP0002138_abnormal_hepatobiliary_system2.88255307
11MP0003122_maternal_imprinting2.76474509
12MP0003787_abnormal_imprinting2.53454127
13MP0010329_abnormal_lipoprotein_level2.51642772
14MP0003123_paternal_imprinting2.32949121
15MP0010234_abnormal_vibrissa_follicle2.29004467
16MP0005332_abnormal_amino_acid2.24332630
17MP0003868_abnormal_feces_composition2.13647953
18MP0001944_abnormal_pancreas_morphology2.09296448
19MP0002876_abnormal_thyroid_physiology2.06388480
20MP0001666_abnormal_nutrient_absorption2.05074641
21MP0009780_abnormal_chondrocyte_physiolo1.98823985
22MP0005379_endocrine/exocrine_gland_phen1.88132038
23MP0002693_abnormal_pancreas_physiology1.81802431
24MP0005220_abnormal_exocrine_pancreas1.80063637
25MP0001661_extended_life_span1.77321125
26MP0002837_dystrophic_cardiac_calcinosis1.66948427
27MP0002928_abnormal_bile_duct1.64525221
28MP0002118_abnormal_lipid_homeostasis1.64371549
29MP0002078_abnormal_glucose_homeostasis1.62114617
30MP0000013_abnormal_adipose_tissue1.59338846
31MP0009840_abnormal_foam_cell1.58458534
32MP0002163_abnormal_gland_morphology1.55760561
33MP0010368_abnormal_lymphatic_system1.45829597
34MP0009697_abnormal_copulation1.32323247
35MP0000609_abnormal_liver_physiology1.31736229
36MP0002638_abnormal_pupillary_reflex1.29743495
37MP0009643_abnormal_urine_homeostasis1.23686149
38MP0005645_abnormal_hypothalamus_physiol1.20449044
39MP0004510_myositis1.18592041
40MP0004019_abnormal_vitamin_homeostasis1.18498483
41MP0005448_abnormal_energy_balance1.15535060
42MP0002822_catalepsy1.14053757
43MP0000462_abnormal_digestive_system1.12424264
44MP0003011_delayed_dark_adaptation1.12093617
45MP0005636_abnormal_mineral_homeostasis1.11192948
46MP0002168_other_aberrant_phenotype1.08994525
47MP0001756_abnormal_urination1.07454173
48MP0000003_abnormal_adipose_tissue1.03651890
49MP0008872_abnormal_physiological_respon0.98057550
50MP0003121_genomic_imprinting0.98011224
51MP0008877_abnormal_DNA_methylation0.96503137
52MP0002971_abnormal_brown_adipose0.95169279
53MP0010386_abnormal_urinary_bladder0.94970596
54MP0003879_abnormal_hair_cell0.94769591
55MP0005535_abnormal_body_temperature0.93908856
56MP0001986_abnormal_taste_sensitivity0.93711253
57MP0003172_abnormal_lysosome_physiology0.93282332
58MP0001764_abnormal_homeostasis0.93161469
59MP0005319_abnormal_enzyme/_coenzyme0.93053746
60MP0003953_abnormal_hormone_level0.90488441
61MP0000639_abnormal_adrenal_gland0.90423859
62MP0005167_abnormal_blood-brain_barrier0.89040579
63MP0009642_abnormal_blood_homeostasis0.87426643
64MP0001984_abnormal_olfaction0.86579731
65MP0003075_altered_response_to0.86540492
66MP0003656_abnormal_erythrocyte_physiolo0.85612713
67MP0005646_abnormal_pituitary_gland0.85163668
68MP0003045_fibrosis0.82715537
69MP0003690_abnormal_glial_cell0.82253632
70MP0003633_abnormal_nervous_system0.80476990
71MP0002295_abnormal_pulmonary_circulatio0.80439695
72MP0003191_abnormal_cellular_cholesterol0.80303089
73MP0002102_abnormal_ear_morphology0.79332286
74MP0000598_abnormal_liver_morphology0.76044047
75MP0009046_muscle_twitch0.75306179
76MP0002090_abnormal_vision0.75219735
77MP0004133_heterotaxia0.74622792
78MP0000678_abnormal_parathyroid_gland0.73520276
79MP0005395_other_phenotype0.72560239
80MP0005266_abnormal_metabolism0.65441499
81MP0010678_abnormal_skin_adnexa0.63311477
82MP0004043_abnormal_pH_regulation0.62300107
83MP0005376_homeostasis/metabolism_phenot0.58354937
84MP0005084_abnormal_gallbladder_morpholo0.57479673
85MP0005551_abnormal_eye_electrophysiolog0.56872422
86MP0008775_abnormal_heart_ventricle0.55321349
87MP0003943_abnormal_hepatobiliary_system0.55106300
88MP0005670_abnormal_white_adipose0.53346147
89MP0006036_abnormal_mitochondrial_physio0.52366775
90MP0006072_abnormal_retinal_apoptosis0.51771206
91MP0002108_abnormal_muscle_morphology0.50896688
92MP0001765_abnormal_ion_homeostasis0.49418243
93MP0000230_abnormal_systemic_arterial0.49173933
94MP0001440_abnormal_grooming_behavior0.47480619
95MP0005367_renal/urinary_system_phenotyp0.47146628
96MP0000516_abnormal_urinary_system0.47146628
97MP0005334_abnormal_fat_pad0.46463521
98MP0001727_abnormal_embryo_implantation0.46426240
99MP0002136_abnormal_kidney_physiology0.46078220
100MP0002132_abnormal_respiratory_system0.45752679

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic seizures (HP:0002173)7.93606892
2Hyperinsulinemic hypoglycemia (HP:0000825)6.99619307
3Hypoglycemic coma (HP:0001325)6.74241669
4Complement deficiency (HP:0004431)6.51799927
5Ketoacidosis (HP:0001993)6.18942156
6Prolonged partial thromboplastin time (HP:0003645)6.00411326
7Abnormality of aromatic amino acid family metabolism (HP:0004338)5.86795535
8Abnormality of the pancreatic islet cells (HP:0006476)5.66657708
9Abnormality of endocrine pancreas physiology (HP:0012093)5.66657708
10Hyperglycemia (HP:0003074)5.41813971
11Deep venous thrombosis (HP:0002625)5.18081297
12Abnormality of monocarboxylic acid metabolism (HP:0010996)5.14077163
13Hypobetalipoproteinemia (HP:0003563)5.12494438
14Symptomatic seizures (HP:0011145)5.11386359
15Abnormality of complement system (HP:0005339)4.87061907
16Joint hemorrhage (HP:0005261)4.59035497
17Ketosis (HP:0001946)4.53528869
18Late onset (HP:0003584)4.33252794
19Hyperlipoproteinemia (HP:0010980)4.13007275
20Systemic lupus erythematosus (HP:0002725)4.10207268
21Glomerulonephritis (HP:0000099)3.96349623
22Conjugated hyperbilirubinemia (HP:0002908)3.80059106
23Large for gestational age (HP:0001520)3.71028753
24Xanthomatosis (HP:0000991)3.69196163
25Prominent metopic ridge (HP:0005487)3.67946837
26Insulin-resistant diabetes mellitus (HP:0000831)3.55193734
27Pancreatic islet-cell hyperplasia (HP:0004510)3.53010981
28EEG with generalized epileptiform discharges (HP:0011198)3.28777098
29Hypothermia (HP:0002045)3.27441549
30Epileptiform EEG discharges (HP:0011182)3.24173355
31Abnormality of the metopic suture (HP:0005556)3.22688801
32Abnormality of the intrinsic pathway (HP:0010989)3.20982482
33Hypsarrhythmia (HP:0002521)3.20168188
34Intrahepatic cholestasis (HP:0001406)3.12483737
35Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.94487074
36Abnormality of methionine metabolism (HP:0010901)2.90339775
37Hypolipoproteinemia (HP:0010981)2.86022011
38Type I diabetes mellitus (HP:0100651)2.79915171
39Hypomagnesemia (HP:0002917)2.74532710
40Recurrent gram-negative bacterial infections (HP:0005420)2.59640837
41Neonatal hypoglycemia (HP:0001998)2.59158427
42Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.54314325
43Nephritis (HP:0000123)2.48084095
44Increased circulating renin level (HP:0000848)2.47878132
45Asymmetry of the thorax (HP:0001555)2.47721013
46Abnormal pancreas size (HP:0012094)2.42585493
47Mitral stenosis (HP:0001718)2.41254826
48Fair hair (HP:0002286)2.40487403
49Enlarged penis (HP:0000040)2.40268418
50Insulin resistance (HP:0000855)2.34193894
51Fat malabsorption (HP:0002630)2.31973154
52Abnormality of the common coagulation pathway (HP:0010990)2.30838404
53Abnormality of glutamine family amino acid metabolism (HP:0010902)2.25967751
54Abnormality of aspartate family amino acid metabolism (HP:0010899)2.24293912
55Hypoalphalipoproteinemia (HP:0003233)2.17382764
56Abnormality of magnesium homeostasis (HP:0004921)2.08419700
57Hyperphosphaturia (HP:0003109)2.07010284
58Spontaneous abortion (HP:0005268)2.06523246
59Vascular calcification (HP:0004934)2.05936866
60Steatorrhea (HP:0002570)2.01957811
61Hyperphosphatemia (HP:0002905)2.00272962
62Abnormality of pyrimidine metabolism (HP:0004353)1.99659528
63Enlarged kidneys (HP:0000105)1.96699336
64Lymphangioma (HP:0100764)1.93799081
65Abnormality of sulfur amino acid metabolism (HP:0004339)1.87430309
66Neoplasm of the adrenal cortex (HP:0100641)1.86268383
67Hypokinesia (HP:0002375)1.82747814
68Hepatoblastoma (HP:0002884)1.82339563
69Abnormality of vitamin metabolism (HP:0100508)1.80399869
70Cardiovascular calcification (HP:0011915)1.79760338
71Epidermoid cyst (HP:0200040)1.78349689
72Generalized aminoaciduria (HP:0002909)1.77402694
73Abnormality of calcium-phosphate metabolism (HP:0100530)1.76755804
74Downturned corners of mouth (HP:0002714)1.76528447
75Hyperthyroidism (HP:0000836)1.73858781
76Abnormality of urine glucose concentration (HP:0011016)1.73000766
77Glycosuria (HP:0003076)1.73000766
78Delayed CNS myelination (HP:0002188)1.72472878
79Muscular hypotonia of the trunk (HP:0008936)1.71988002
80Hypercholesterolemia (HP:0003124)1.71806566
81Blue irides (HP:0000635)1.71632434
82Hyperglycinemia (HP:0002154)1.69542538
83Hematochezia (HP:0002573)1.69254214
84Hydroxyprolinuria (HP:0003080)1.69247149
85Abnormality of proline metabolism (HP:0010907)1.69247149
86Hepatic necrosis (HP:0002605)1.68653875
87Lower limb hyperreflexia (HP:0002395)1.66763748
88Metaphyseal dysplasia (HP:0100255)1.64848470
89Gout (HP:0001997)1.64031254
90Megaloblastic anemia (HP:0001889)1.63435645
91Polydipsia (HP:0001959)1.62399745
92Abnormal drinking behavior (HP:0030082)1.62399745
93Conjunctival hamartoma (HP:0100780)1.60909851
94Generalized hypopigmentation of hair (HP:0011358)1.59658191
95Hamartoma of the eye (HP:0010568)1.59149978
96Gingival bleeding (HP:0000225)1.55441693
97Hyperammonemia (HP:0001987)1.54652512
98Abnormal urine phosphate concentration (HP:0012599)1.53062054
99Abnormality of serine family amino acid metabolism (HP:0010894)1.52187273
100Abnormality of glycine metabolism (HP:0010895)1.52187273

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK8.11226025
2PASK4.84218574
3FGFR24.68178979
4NTRK32.75166021
5MAP3K22.73576578
6TIE12.62209417
7FGFR32.62203987
8DAPK22.35038803
9NLK2.16061863
10BMPR1B1.88750927
11PRKAA21.82556027
12FGFR41.81414504
13HIPK21.79491466
14PHKG21.75746890
15PHKG11.75746890
16FER1.64871250
17EPHA31.54432909
18GRK11.48591702
19TRPM71.43559576
20INSRR1.37046236
21ADRBK21.34933309
22PRKAA11.28500158
23MAP3K11.28285532
24PTK2B1.21601625
25ERN11.18304618
26MAP4K21.14778442
27PRKCG1.07150144
28AKT31.05356208
29MAP2K61.04702253
30STK391.00942089
31IRAK11.00803705
32PAK30.97569189
33KIT0.87258415
34TNIK0.86873440
35CSNK1G10.86819075
36SGK20.86435240
37MAP3K70.86393010
38STK110.83979248
39MAPK110.81721654
40SGK2230.80006921
41SGK4940.80006921
42STK38L0.79607160
43WNK40.76691193
44LIMK10.76354827
45NUAK10.72880248
46ACVR1B0.72190977
47KDR0.67448748
48PRKCE0.63333731
49TAOK30.61482307
50WNK30.60761424
51CAMK2D0.60191344
52PTK20.59596901
53TYK20.59522798
54PIK3CG0.59415021
55MAP3K40.59327451
56PINK10.58683859
57PRKACG0.58402351
58ABL20.57989485
59OXSR10.56362682
60JAK10.56194722
61ADRBK10.54415249
62STK30.53488213
63EPHB10.53037125
64PRKACA0.52835376
65SGK30.51470188
66PRKCZ0.50991542
67LMTK20.50823096
68CASK0.49877098
69BCKDK0.49223036
70CAMK1G0.47661269
71PRKG10.45403994
72CSNK1G30.45049643
73SGK10.44320891
74GSK3A0.41683659
75PRKCA0.39507424
76CDK30.38050621
77PLK20.37078573
78MAP2K40.36020673
79TAOK10.35386745
80CSNK1G20.34829673
81STK380.33769836
82PNCK0.33621330
83OBSCN0.33514799
84CSNK1D0.29694896
85ROCK10.29046882
86TRIM280.28521562
87MAPK70.28042930
88PIK3CA0.26834844
89PRKG20.26467493
90CHUK0.25899715
91PRKACB0.25862479
92IGF1R0.25452775
93RPS6KA30.24704737
94PDGFRA0.22079002
95TEC0.21791474
96PDGFRB0.21698887
97MAP2K70.21107798
98DAPK10.21081533
99MAPK10.20891113
100CSNK1A10.20534056

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049506.02014751
2Complement and coagulation cascades_Homo sapiens_hsa046103.51832652
3Caffeine metabolism_Homo sapiens_hsa002323.22056576
4Butanoate metabolism_Homo sapiens_hsa006503.09470520
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.00050206
6Primary bile acid biosynthesis_Homo sapiens_hsa001202.90614459
7Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.61258719
8Retinol metabolism_Homo sapiens_hsa008302.60853697
9Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.48993879
10Fatty acid degradation_Homo sapiens_hsa000712.48252330
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.15614143
12Tryptophan metabolism_Homo sapiens_hsa003802.11811383
13Chemical carcinogenesis_Homo sapiens_hsa052042.10992096
14Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.06351318
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.05842786
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.86751454
17Arginine biosynthesis_Homo sapiens_hsa002201.80388606
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.77725041
19Histidine metabolism_Homo sapiens_hsa003401.74160903
20Vitamin B6 metabolism_Homo sapiens_hsa007501.73246010
21Pentose and glucuronate interconversions_Homo sapiens_hsa000401.73105380
22Tyrosine metabolism_Homo sapiens_hsa003501.72262245
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.68358074
24Bile secretion_Homo sapiens_hsa049761.63421264
25Insulin secretion_Homo sapiens_hsa049111.62078767
26Type II diabetes mellitus_Homo sapiens_hsa049301.56832778
27Phenylalanine metabolism_Homo sapiens_hsa003601.52173364
28Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.50773944
29Linoleic acid metabolism_Homo sapiens_hsa005911.50025666
30Drug metabolism - other enzymes_Homo sapiens_hsa009831.45184036
31beta-Alanine metabolism_Homo sapiens_hsa004101.37424275
32Peroxisome_Homo sapiens_hsa041461.28336759
33Starch and sucrose metabolism_Homo sapiens_hsa005001.27633407
34Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.27120169
35ABC transporters_Homo sapiens_hsa020101.25926001
36Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18246094
37Protein export_Homo sapiens_hsa030601.14411261
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.10959628
39Fatty acid metabolism_Homo sapiens_hsa012121.08054849
40PPAR signaling pathway_Homo sapiens_hsa033201.01147707
41Propanoate metabolism_Homo sapiens_hsa006400.99953863
42Arachidonic acid metabolism_Homo sapiens_hsa005900.98671214
43Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.98518160
44Fatty acid elongation_Homo sapiens_hsa000620.97709379
45One carbon pool by folate_Homo sapiens_hsa006700.94422494
46Staphylococcus aureus infection_Homo sapiens_hsa051500.91741490
47Regulation of autophagy_Homo sapiens_hsa041400.90819358
48Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.90580782
49Sulfur metabolism_Homo sapiens_hsa009200.87928644
50Prion diseases_Homo sapiens_hsa050200.82038019
51Insulin resistance_Homo sapiens_hsa049310.77042910
52Cysteine and methionine metabolism_Homo sapiens_hsa002700.68076514
53Type I diabetes mellitus_Homo sapiens_hsa049400.67869302
54Arginine and proline metabolism_Homo sapiens_hsa003300.66827579
55Lysine degradation_Homo sapiens_hsa003100.65803981
56Pyruvate metabolism_Homo sapiens_hsa006200.63525222
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62253466
58Glucagon signaling pathway_Homo sapiens_hsa049220.59933727
59Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.57799164
60Ovarian steroidogenesis_Homo sapiens_hsa049130.57558560
61Collecting duct acid secretion_Homo sapiens_hsa049660.57349560
62Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.57225891
63Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.54786414
64Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.53229905
65Circadian rhythm_Homo sapiens_hsa047100.51959922
66AMPK signaling pathway_Homo sapiens_hsa041520.51909048
67Fat digestion and absorption_Homo sapiens_hsa049750.51063735
68mTOR signaling pathway_Homo sapiens_hsa041500.49313004
69Carbon metabolism_Homo sapiens_hsa012000.48264888
70Metabolic pathways_Homo sapiens_hsa011000.43371591
71Selenocompound metabolism_Homo sapiens_hsa004500.42473462
72Fructose and mannose metabolism_Homo sapiens_hsa000510.36706058
73Cyanoamino acid metabolism_Homo sapiens_hsa004600.36413322
74Renin secretion_Homo sapiens_hsa049240.35393104
75Glycosaminoglycan degradation_Homo sapiens_hsa005310.33341653
76Biosynthesis of amino acids_Homo sapiens_hsa012300.32861575
77Dorso-ventral axis formation_Homo sapiens_hsa043200.30853543
782-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.29601827
79Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29057365
80Mineral absorption_Homo sapiens_hsa049780.27954951
81Adipocytokine signaling pathway_Homo sapiens_hsa049200.27789601
82Galactose metabolism_Homo sapiens_hsa000520.22947784
83Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.22381076
84Vibrio cholerae infection_Homo sapiens_hsa051100.21650844
85Thyroid hormone synthesis_Homo sapiens_hsa049180.21443445
86Folate biosynthesis_Homo sapiens_hsa007900.21230678
87Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.19457406
88Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.19407937
89Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.15666398
90Vitamin digestion and absorption_Homo sapiens_hsa049770.15582177
91Insulin signaling pathway_Homo sapiens_hsa049100.15159477
92Synaptic vesicle cycle_Homo sapiens_hsa047210.14542809
93Nitrogen metabolism_Homo sapiens_hsa009100.12940762
94Sphingolipid metabolism_Homo sapiens_hsa006000.12328925
95Serotonergic synapse_Homo sapiens_hsa047260.12008080
96Glycerolipid metabolism_Homo sapiens_hsa005610.10857332
97Pertussis_Homo sapiens_hsa051330.10794799
98Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.09346312
99Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.08948632
100Pancreatic secretion_Homo sapiens_hsa049720.07004062

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