INS

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: After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of type B pancreatic cell apoptotic process (GO:2000674)7.93250238
2regulation of hexokinase activity (GO:1903299)7.02678204
3regulation of glucokinase activity (GO:0033131)7.02678204
4regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022356.53773722
5negative regulation of hormone biosynthetic process (GO:0032353)6.12432394
6lactate metabolic process (GO:0006089)5.85805816
7nitric oxide mediated signal transduction (GO:0007263)5.72555271
8* endocrine pancreas development (GO:0031018)5.53523061
9negative regulation of hormone metabolic process (GO:0032351)5.31136853
10type B pancreatic cell development (GO:0003323)5.24532766
11insulin secretion (GO:0030073)5.11978192
12chemosensory behavior (GO:0007635)4.99405830
13positive regulation of insulin secretion (GO:0032024)4.75627423
14positive regulation of growth hormone secretion (GO:0060124)4.75521304
15negative regulation of Ras GTPase activity (GO:0034261)4.72142039
16nucleoside diphosphate catabolic process (GO:0009134)4.67830614
17inositol phosphate catabolic process (GO:0071545)4.57883441
18cellular ketone body metabolic process (GO:0046950)4.55177510
19detection of calcium ion (GO:0005513)4.52083871
20* positive regulation of peptide hormone secretion (GO:0090277)4.43152061
21negative regulation of inflammatory response to antigenic stimulus (GO:0002862)4.41714367
22histamine secretion (GO:0001821)4.40002327
23* positive regulation of glycolytic process (GO:0045821)4.35282325
24glandular epithelial cell differentiation (GO:0002067)4.33911792
25* positive regulation of peptide secretion (GO:0002793)4.26350192
26negative regulation of neurological system process (GO:0031645)4.23667648
27phosphorylated carbohydrate dephosphorylation (GO:0046838)4.19204991
28inositol phosphate dephosphorylation (GO:0046855)4.19204991
29positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.13995061
30signal peptide processing (GO:0006465)4.09311888
31ketone body metabolic process (GO:1902224)4.02206422
32dendritic spine morphogenesis (GO:0060997)3.95460012
33negative regulation of glial cell proliferation (GO:0060253)3.91969515
34regulation of glucocorticoid metabolic process (GO:0031943)3.90553573
35regulation of energy homeostasis (GO:2000505)3.85088522
36glandular epithelial cell development (GO:0002068)3.79241328
37* regulation of insulin secretion (GO:0050796)3.78520548
38response to lipoprotein particle (GO:0055094)3.77942997
39regulation of steroid hormone biosynthetic process (GO:0090030)3.64364556
40positive regulation of macroautophagy (GO:0016239)3.60045113
41* regulation of peptide hormone secretion (GO:0090276)3.59621703
42response to glucose (GO:0009749)3.57973001
43exocrine pancreas development (GO:0031017)3.55731906
44polyol catabolic process (GO:0046174)3.54594232
45righting reflex (GO:0060013)3.53516660
46peptide hormone processing (GO:0016486)3.52580031
47peptide hormone secretion (GO:0030072)3.52380258
48* regulation of peptide secretion (GO:0002791)3.51644732
49water-soluble vitamin biosynthetic process (GO:0042364)3.50939656
50histamine transport (GO:0051608)3.40183463
51regulation of acute inflammatory response to antigenic stimulus (GO:0002864)3.39632181
52response to hexose (GO:0009746)3.39455462
53negative regulation of cytosolic calcium ion concentration (GO:0051481)3.38602309
54* positive regulation of hormone secretion (GO:0046887)3.37833063
55peptide secretion (GO:0002790)3.37301407
56cellular response to vitamin D (GO:0071305)3.33909423
57protein targeting to Golgi (GO:0000042)3.33595844
58cellular response to hepatocyte growth factor stimulus (GO:0035729)3.32883336
59response to hepatocyte growth factor (GO:0035728)3.32883336
60positive regulation of response to extracellular stimulus (GO:0032106)3.32269790
61positive regulation of response to nutrient levels (GO:0032109)3.32269790
62regulation of growth hormone secretion (GO:0060123)3.32148287
63epithelial cell fate commitment (GO:0072148)3.28879703
64* negative regulation of acute inflammatory response (GO:0002674)3.28779413
65L-alpha-amino acid transmembrane transport (GO:1902475)3.22624417
66kidney morphogenesis (GO:0060993)3.21515403
67response to monosaccharide (GO:0034284)3.20614869
68* regulation of hormone secretion (GO:0046883)3.16797326
69establishment of protein localization to Golgi (GO:0072600)3.15866934
70macroautophagy (GO:0016236)3.15710614
71negative regulation of bone resorption (GO:0045779)3.15182365
72zinc ion homeostasis (GO:0055069)3.14052788
73fructose metabolic process (GO:0006000)3.10226633
74keratinocyte development (GO:0003334)3.09779693
75retrograde transport, vesicle recycling within Golgi (GO:0000301)3.06732254
76positive regulation of TOR signaling (GO:0032008)3.05566161
77cellular zinc ion homeostasis (GO:0006882)3.01240438
78protein localization to Golgi apparatus (GO:0034067)2.98158553
79calcium ion import (GO:0070509)2.97720350
80prostate gland growth (GO:0060736)2.97353495
81positive regulation of Rap GTPase activity (GO:0032854)2.97329584
82glycerophospholipid catabolic process (GO:0046475)2.94904649
83mesenchymal cell differentiation involved in kidney development (GO:0072161)2.94613443
84mesenchymal cell differentiation involved in renal system development (GO:2001012)2.94613443
85startle response (GO:0001964)2.93141342
86regulation of calcium ion-dependent exocytosis (GO:0017158)2.89495667
87negative regulation of catecholamine secretion (GO:0033604)2.86072802
88negative regulation of insulin secretion (GO:0046676)2.85384785
89* regulation of peptide transport (GO:0090087)2.84870989
90hormone secretion (GO:0046879)2.83995242
91regulation of protein glycosylation (GO:0060049)2.82560958
92respiratory chain complex IV assembly (GO:0008535)2.79350457
93positive regulation of neurotransmitter transport (GO:0051590)2.76520824
94zinc ion transmembrane transport (GO:0071577)2.76376378
95intra-Golgi vesicle-mediated transport (GO:0006891)2.75376038
96regulation of transmission of nerve impulse (GO:0051969)2.74163804
97positive regulation of meiosis (GO:0045836)2.72800875
98peptide transport (GO:0015833)2.72142995
99columnar/cuboidal epithelial cell development (GO:0002066)2.69197717
100zinc ion transport (GO:0006829)2.69028541

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse7.67586972
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.70911153
3NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.94636372
4POU3F2_20337985_ChIP-ChIP_501MEL_Human2.61003336
5ZNF274_21170338_ChIP-Seq_K562_Hela2.17701572
6GBX2_23144817_ChIP-Seq_PC3_Human2.16799139
7ZFP57_27257070_Chip-Seq_ESCs_Mouse1.99297368
8RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.90600706
9EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.89866755
10CTBP2_25329375_ChIP-Seq_LNCAP_Human1.87502488
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.85783644
12BMI1_23680149_ChIP-Seq_NPCS_Mouse1.74646739
13SMAD4_21799915_ChIP-Seq_A2780_Human1.66991254
14AR_25329375_ChIP-Seq_VCAP_Human1.60897399
15HTT_18923047_ChIP-ChIP_STHdh_Human1.60018750
16IGF1R_20145208_ChIP-Seq_DFB_Human1.59757263
17P300_19829295_ChIP-Seq_ESCs_Human1.59541124
18CDX2_19796622_ChIP-Seq_MESCs_Mouse1.57038953
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.55068343
20REST_21632747_ChIP-Seq_MESCs_Mouse1.52366552
21FLI1_27457419_Chip-Seq_LIVER_Mouse1.52352839
22SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.51706589
23NANOG_18555785_Chip-Seq_ESCs_Mouse1.51278131
24MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.48776977
25SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.48202358
26AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.48125912
27PIAS1_25552417_ChIP-Seq_VCAP_Human1.47384294
28SALL1_21062744_ChIP-ChIP_HESCs_Human1.46517326
29ER_23166858_ChIP-Seq_MCF-7_Human1.45609431
30TP53_22573176_ChIP-Seq_HFKS_Human1.42921757
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.41546992
32E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.38354703
33NFE2_27457419_Chip-Seq_LIVER_Mouse1.37160039
34CBP_20019798_ChIP-Seq_JUKART_Human1.35601205
35IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.35601205
36NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.33929409
37* CDX2_22108803_ChIP-Seq_LS180_Human1.33826994
38STAT3_23295773_ChIP-Seq_U87_Human1.33050509
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.32964873
40EZH2_27294783_Chip-Seq_NPCs_Mouse1.32842865
41TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.32280159
42REST_18959480_ChIP-ChIP_MESCs_Mouse1.31394956
43CMYC_18555785_Chip-Seq_ESCs_Mouse1.30882851
44P53_22387025_ChIP-Seq_ESCs_Mouse1.30301339
45PCGF2_27294783_Chip-Seq_ESCs_Mouse1.28497723
46FUS_26573619_Chip-Seq_HEK293_Human1.28297922
47UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.27145801
48VDR_22108803_ChIP-Seq_LS180_Human1.26398670
49EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.25866403
50EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.24091245
51TCF4_23295773_ChIP-Seq_U87_Human1.24066150
52NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23107579
53ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.22584827
54CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.20530443
55PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.19612601
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.18986700
57NANOG_19829295_ChIP-Seq_ESCs_Human1.17420894
58SOX2_19829295_ChIP-Seq_ESCs_Human1.17420894
59SUZ12_27294783_Chip-Seq_NPCs_Mouse1.17315875
60SMAD3_21741376_ChIP-Seq_EPCs_Human1.17017322
61STAT3_18555785_Chip-Seq_ESCs_Mouse1.16812629
62EWS_26573619_Chip-Seq_HEK293_Human1.16627147
63SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.14955090
64HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.14584714
65TAF15_26573619_Chip-Seq_HEK293_Human1.14329051
66CRX_20693478_ChIP-Seq_RETINA_Mouse1.13741091
67SUZ12_18555785_Chip-Seq_ESCs_Mouse1.13511830
68NR3C1_21868756_ChIP-Seq_MCF10A_Human1.13408261
69* BCAT_22108803_ChIP-Seq_LS180_Human1.13307204
70TFEB_21752829_ChIP-Seq_HELA_Human1.12275556
71FLI1_21867929_ChIP-Seq_TH2_Mouse1.12042280
72FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.11962338
73P300_18555785_Chip-Seq_ESCs_Mouse1.11830763
74FOXA1_27270436_Chip-Seq_PROSTATE_Human1.11678478
75FOXA1_25329375_ChIP-Seq_VCAP_Human1.11678478
76CTCF_18555785_Chip-Seq_ESCs_Mouse1.10580925
77OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09758704
78TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.09421289
79RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09277268
80E2F1_18555785_Chip-Seq_ESCs_Mouse1.08875170
81HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.06112756
82EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.05563137
83SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.05324726
84AR_20517297_ChIP-Seq_VCAP_Human1.05315654
85SOX2_18555785_Chip-Seq_ESCs_Mouse1.05284520
86SMAD4_21741376_ChIP-Seq_EPCs_Human1.05212551
87ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04748678
88KLF5_20875108_ChIP-Seq_MESCs_Mouse1.04279520
89TBL1_22424771_ChIP-Seq_293T_Human1.04239851
90OCT4_21477851_ChIP-Seq_ESCs_Mouse1.02854067
91SOX2_21211035_ChIP-Seq_LN229_Gbm1.02447182
92TOP2B_26459242_ChIP-Seq_MCF-7_Human1.00808718
93PRDM14_20953172_ChIP-Seq_ESCs_Human0.99585357
94GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.98908273
95TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.98873329
96NFYB_21822215_ChIP-Seq_K562_Human0.98181032
97RUNX2_22187159_ChIP-Seq_PCA_Human0.97872519
98PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.97732175
99NOTCH1_21737748_ChIP-Seq_TLL_Human0.97330565
100* TCF4_22108803_ChIP-Seq_LS180_Human0.97007561

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis6.02412395
2MP0003283_abnormal_digestive_organ5.39979418
3MP0003787_abnormal_imprinting4.89660141
4MP0010234_abnormal_vibrissa_follicle4.57959233
5MP0003123_paternal_imprinting3.82222929
6MP0002909_abnormal_adrenal_gland3.39678258
7MP0003122_maternal_imprinting3.37837002
8MP0009780_abnormal_chondrocyte_physiolo3.23414011
9MP0002837_dystrophic_cardiac_calcinosis3.02887841
10MP0002693_abnormal_pancreas_physiology2.94714566
11MP0002163_abnormal_gland_morphology2.94339637
12MP0001944_abnormal_pancreas_morphology2.88766806
13MP0005379_endocrine/exocrine_gland_phen2.58182146
14MP0008877_abnormal_DNA_methylation2.56105850
15MP0005220_abnormal_exocrine_pancreas2.17313848
16MP0002822_catalepsy2.14006811
17MP0003121_genomic_imprinting2.12739067
18MP0002928_abnormal_bile_duct1.95754389
19MP0005645_abnormal_hypothalamus_physiol1.94874009
20MP0002078_abnormal_glucose_homeostasis1.84959132
21MP0002102_abnormal_ear_morphology1.83745496
22MP0002876_abnormal_thyroid_physiology1.80668401
23MP0009046_muscle_twitch1.77857282
24MP0000462_abnormal_digestive_system1.77521309
25MP0000013_abnormal_adipose_tissue1.75417825
26MP0001984_abnormal_olfaction1.72745807
27MP0003172_abnormal_lysosome_physiology1.59499461
28MP0005367_renal/urinary_system_phenotyp1.59463838
29MP0000516_abnormal_urinary_system1.59463838
30MP0005646_abnormal_pituitary_gland1.55775637
31MP0006072_abnormal_retinal_apoptosis1.54676363
32MP0010352_gastrointestinal_tract_polyps1.54485881
33MP0010678_abnormal_skin_adnexa1.49347721
34MP0002090_abnormal_vision1.42756407
35MP0002638_abnormal_pupillary_reflex1.36030926
36MP0004043_abnormal_pH_regulation1.34350177
37MP0001756_abnormal_urination1.28156943
38MP0000427_abnormal_hair_cycle1.22606600
39MP0002277_abnormal_respiratory_mucosa1.21536821
40MP0010386_abnormal_urinary_bladder1.21009697
41MP0001986_abnormal_taste_sensitivity1.19770603
42MP0004510_myositis1.16204983
43MP0003953_abnormal_hormone_level1.14205976
44MP0005448_abnormal_energy_balance1.12549719
45MP0003011_delayed_dark_adaptation1.10740623
46MP0000569_abnormal_digit_pigmentation1.08676769
47MP0001727_abnormal_embryo_implantation1.06253348
48MP0001765_abnormal_ion_homeostasis1.05866673
49MP0010329_abnormal_lipoprotein_level1.05302677
50MP0005332_abnormal_amino_acid1.04741261
51MP0005636_abnormal_mineral_homeostasis1.00106144
52MP0000003_abnormal_adipose_tissue1.00008015
53MP0004270_analgesia0.98713486
54MP0005535_abnormal_body_temperature0.95659161
55MP0003633_abnormal_nervous_system0.95477198
56MP0005551_abnormal_eye_electrophysiolog0.94651620
57MP0002160_abnormal_reproductive_system0.94638512
58MP0009745_abnormal_behavioral_response0.93760252
59MP0002118_abnormal_lipid_homeostasis0.93315311
60MP0009643_abnormal_urine_homeostasis0.93229536
61MP0004885_abnormal_endolymph0.91177605
62MP0003045_fibrosis0.90846726
63MP0005075_abnormal_melanosome_morpholog0.90376959
64MP0002064_seizures0.90314118
65MP0005253_abnormal_eye_physiology0.87829118
66MP0001440_abnormal_grooming_behavior0.86547568
67MP0005386_behavior/neurological_phenoty0.81953319
68MP0004924_abnormal_behavior0.81953319
69MP0001661_extended_life_span0.81121106
70MP0004134_abnormal_chest_morphology0.79853332
71MP0002557_abnormal_social/conspecific_i0.79673937
72MP0006036_abnormal_mitochondrial_physio0.79331451
73MP0002938_white_spotting0.78665067
74MP0005389_reproductive_system_phenotype0.78411846
75MP0000639_abnormal_adrenal_gland0.75312302
76MP0000678_abnormal_parathyroid_gland0.75092753
77MP0002229_neurodegeneration0.74383965
78MP0001905_abnormal_dopamine_level0.73913218
79MP0002572_abnormal_emotion/affect_behav0.73411252
80MP0002168_other_aberrant_phenotype0.72068050
81MP0004142_abnormal_muscle_tone0.70370339
82MP0002272_abnormal_nervous_system0.70333344
83MP0005452_abnormal_adipose_tissue0.69436073
84MP0000631_abnormal_neuroendocrine_gland0.69270857
85MP0002166_altered_tumor_susceptibility0.67593585
86MP0003868_abnormal_feces_composition0.63277999
87MP0000538_abnormal_urinary_bladder0.62225912
88MP0003252_abnormal_bile_duct0.62213998
89MP0008872_abnormal_physiological_respon0.60814902
90MP0002069_abnormal_eating/drinking_beha0.59715140
91MP0004859_abnormal_synaptic_plasticity0.58520243
92MP0002295_abnormal_pulmonary_circulatio0.58061359
93MP0000383_abnormal_hair_follicle0.56777948
94MP0003943_abnormal_hepatobiliary_system0.56722864
95MP0009642_abnormal_blood_homeostasis0.56342223
96MP0005365_abnormal_bile_salt0.56311091
97MP0002971_abnormal_brown_adipose0.55613180
98MP0010307_abnormal_tumor_latency0.55449710
99MP0003119_abnormal_digestive_system0.53365715
100MP0003635_abnormal_synaptic_transmissio0.49886962

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic coma (HP:0001325)9.19706194
2Symptomatic seizures (HP:0011145)7.75504661
3* Ketoacidosis (HP:0001993)5.14478785
4Large for gestational age (HP:0001520)4.90131165
5Hypomagnesemia (HP:0002917)4.86062213
6Insulin-resistant diabetes mellitus (HP:0000831)4.66981408
7Late onset (HP:0003584)4.63491564
8Elevated circulating parathyroid hormone (PTH) level (HP:0003165)4.56651637
9Pancreatic islet-cell hyperplasia (HP:0004510)4.27657632
10* Abnormality of endocrine pancreas physiology (HP:0012093)4.20198463
11* Abnormality of the pancreatic islet cells (HP:0006476)4.20198463
12Hypothermia (HP:0002045)4.10130375
13* Hyperglycemia (HP:0003074)4.00728370
14Increased circulating renin level (HP:0000848)3.92713144
15Abnormality of magnesium homeostasis (HP:0004921)3.87174163
16Enlarged penis (HP:0000040)3.79692224
17Neoplasm of the adrenal cortex (HP:0100641)3.71558837
18Abnormal pancreas size (HP:0012094)3.60317896
19* Prominent metopic ridge (HP:0005487)3.16546344
20* Ketosis (HP:0001946)3.14907337
21Hyperphosphatemia (HP:0002905)3.06249885
22Hypokinesia (HP:0002375)3.04104444
23Hyperthyroidism (HP:0000836)3.00472065
24* EEG with generalized epileptiform discharges (HP:0011198)2.83154544
25* Abnormality of the metopic suture (HP:0005556)2.80033176
26* Epileptiform EEG discharges (HP:0011182)2.80002964
27Tongue fasciculations (HP:0001308)2.71975296
28Hamartoma of the eye (HP:0010568)2.71474945
29Hematochezia (HP:0002573)2.71120136
30Insulin resistance (HP:0000855)2.68081668
31Metaphyseal dysplasia (HP:0100255)2.60873440
32* Hypsarrhythmia (HP:0002521)2.60307431
33Polydipsia (HP:0001959)2.59642076
34Abnormal drinking behavior (HP:0030082)2.59642076
35Conjunctival hamartoma (HP:0100780)2.59229704
36Tetany (HP:0001281)2.56193015
37Testicular neoplasm (HP:0010788)2.46072766
38Abnormal sex determination (HP:0012244)2.35704158
39Sex reversal (HP:0012245)2.35704158
40Hepatoblastoma (HP:0002884)2.35497499
41Abnormality of calcium-phosphate metabolism (HP:0100530)2.34727137
42Hepatic necrosis (HP:0002605)2.33224126
43Muscle fibrillation (HP:0010546)2.31397531
44Hemiparesis (HP:0001269)2.30055507
45Calf muscle hypertrophy (HP:0008981)2.24773670
46Agitation (HP:0000713)2.24594625
47Neoplasm of the adrenal gland (HP:0100631)2.18443902
48Abnormality of small intestinal villus morphology (HP:0011472)2.16710804
49Villous atrophy (HP:0011473)2.16710804
50Asymmetry of the thorax (HP:0001555)2.15833048
51Diminished movement (HP:0002374)2.13534732
52Macroorchidism (HP:0000053)2.13227957
53Methylmalonic acidemia (HP:0002912)2.12559763
54Lower limb hyperreflexia (HP:0002395)2.04551199
55Cutaneous melanoma (HP:0012056)2.01729217
56Abnormality of renin-angiotensin system (HP:0000847)2.01538858
57Hypoglycemic seizures (HP:0002173)11.3675411
58Hyperinsulinemic hypoglycemia (HP:0000825)10.0334186
59Basal ganglia calcification (HP:0002135)1.98359637
60Thyroiditis (HP:0100646)1.98298805
61Muscle hypertrophy of the lower extremities (HP:0008968)1.93739276
62Progressive macrocephaly (HP:0004481)1.90916696
63Unilateral renal agenesis (HP:0000122)1.89566235
64* Muscular hypotonia of the trunk (HP:0008936)1.84995878
65Ventricular fibrillation (HP:0001663)1.83959534
66* Downturned corners of mouth (HP:0002714)1.83846865
67Febrile seizures (HP:0002373)1.83173934
68Abnormality of the basal ganglia (HP:0002134)1.80514503
69Abnormality of aromatic amino acid family metabolism (HP:0004338)1.77405001
70Tachypnea (HP:0002789)1.76687124
71Increased density of long bones (HP:0006392)1.75623901
72Aqueductal stenosis (HP:0002410)1.74828419
73Acute hepatic failure (HP:0006554)1.73844658
74Epileptic encephalopathy (HP:0200134)1.73731781
75Stridor (HP:0010307)1.68018458
76Furrowed tongue (HP:0000221)1.68005662
77Abnormality of dicarboxylic acid metabolism (HP:0010995)1.67097030
78Dicarboxylic aciduria (HP:0003215)1.67097030
79Lymphangioma (HP:0100764)1.65444329
80Polyuria (HP:0000103)1.64043894
81Thyroid carcinoma (HP:0002890)1.63339752
82Abnormality of vitamin B metabolism (HP:0004340)1.59023639
83Neonatal hypoglycemia (HP:0001998)1.58219422
84Myoglobinuria (HP:0002913)1.53012304
85Hyperphosphaturia (HP:0003109)1.52923822
86Abnormal albumin level (HP:0012116)1.52382847
87Hypoalbuminemia (HP:0003073)1.52382847
88Malnutrition (HP:0004395)1.51232201
89Hyperparathyroidism (HP:0000843)1.50410339
90Methylmalonic aciduria (HP:0012120)1.50306749
91Adrenal hypoplasia (HP:0000835)1.49663110
92Menstrual irregularities (HP:0000858)1.49130167
93Intention tremor (HP:0002080)1.48953040
94Septate vagina (HP:0001153)1.48610631
95Hypobetalipoproteinemia (HP:0003563)1.47672463
96Disproportionate short-trunk short stature (HP:0003521)1.47487295
97Abnormality of methionine metabolism (HP:0010901)1.45726299
98Aplasia/hypoplasia of the uterus (HP:0008684)1.45566324
99Exocrine pancreatic insufficiency (HP:0001738)1.44238527
100Delayed gross motor development (HP:0002194)1.43672036

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK9.54919268
2PASK5.21662252
3FGFR25.08175295
4MAP3K22.88517898
5NTRK32.57108478
6FGFR32.51646649
7PHKG12.14864250
8PHKG22.14864250
9DAPK22.12421596
10NLK1.84800169
11HIPK21.72914644
12TRIM281.61363062
13TNIK1.46855002
14MAP4K21.37632150
15PAK31.36659899
16BMPR1B1.34031314
17MAP3K11.29135611
18PRKAA21.27558898
19PNCK1.22882226
20STK38L1.21184597
21ADRBK21.20562012
22AKT31.18581130
23FER1.12310703
24MAP3K41.09214363
25INSRR1.08113506
26GRK11.06534009
27CSNK1G11.04877020
28TRPM71.04863041
29PRKAA11.03486534
30MST41.00117689
31CASK0.95684008
32PRKCG0.91837218
33WNK30.90198754
34PINK10.88430620
35STK240.87858580
36STK30.87215377
37MAP2K60.84383959
38STK110.82720324
39STK390.82533910
40PLK30.81790225
41CSNK1G30.81471406
42LIMK10.81180625
43TAOK10.81048261
44NUAK10.79267928
45EPHA30.79037997
46ACVR1B0.78134471
47SGK20.76732737
48OXSR10.75171530
49CSNK1G20.73627166
50IRAK10.73484506
51MAP3K70.72991682
52PLK20.72705017
53STK160.72209256
54EIF2AK30.70041260
55PRKCE0.67597451
56CAMK1G0.64291909
57ERBB30.63180293
58PTK2B0.62195190
59CAMK2D0.61306929
60MAP2K70.59443245
61WNK40.55544418
62CDK30.53280730
63SGK2230.49968296
64SGK4940.49968296
65YES10.48386295
66IRAK20.44853335
67SGK30.44616871
68TSSK60.44203241
69MAP3K90.43094036
70PRKCZ0.39147149
71CAMK10.36125295
72PRKACA0.35736598
73EIF2AK10.34658514
74DAPK10.33586653
75PTK20.33333882
76SGK10.33302855
77ADRBK10.32785794
78TESK10.29924834
79PRKCA0.29679654
80ZAK0.28998003
81JAK10.27740257
82STK40.27612655
83CSNK1A10.27129021
84PRKG10.26137065
85PRKCH0.25721395
86ROCK10.25408016
87CSNK1D0.23328744
88IKBKB0.23167608
89PRKD20.22563548
90CAMK2A0.21976842
91GSK3A0.21453174
92ATM0.20800016
93CDC42BPA0.19790789
94IRAK40.19291478
95CHUK0.18823875
96CSNK1A1L0.18356996
97UHMK10.17140462
98CSNK1E0.17006118
99CDK50.16573051
100OBSCN0.15695619

Predicted pathways (KEGG)

RankGene SetZ-score
1* Maturity onset diabetes of the young_Homo sapiens_hsa049508.78232820
2Butanoate metabolism_Homo sapiens_hsa006503.51544407
3Protein export_Homo sapiens_hsa030603.47739736
4* Insulin secretion_Homo sapiens_hsa049113.31670262
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.49278164
6Collecting duct acid secretion_Homo sapiens_hsa049662.44790579
7Fatty acid elongation_Homo sapiens_hsa000622.42994873
8* Type II diabetes mellitus_Homo sapiens_hsa049302.39467188
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.29522225
10Vitamin B6 metabolism_Homo sapiens_hsa007502.15856758
11Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.97268435
12Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.74999024
13Synaptic vesicle cycle_Homo sapiens_hsa047211.63264967
14Fatty acid metabolism_Homo sapiens_hsa012121.60822727
15Sulfur metabolism_Homo sapiens_hsa009201.59922346
16Tryptophan metabolism_Homo sapiens_hsa003801.55583678
17Carbohydrate digestion and absorption_Homo sapiens_hsa049731.49883791
18Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.41397671
19Vibrio cholerae infection_Homo sapiens_hsa051101.38246437
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.26192758
21Fatty acid degradation_Homo sapiens_hsa000711.25912382
22Circadian rhythm_Homo sapiens_hsa047101.22774229
23* Type I diabetes mellitus_Homo sapiens_hsa049401.20548012
24Renin secretion_Homo sapiens_hsa049241.19819148
25Oxidative phosphorylation_Homo sapiens_hsa001901.15476180
26Selenocompound metabolism_Homo sapiens_hsa004501.13390166
27ABC transporters_Homo sapiens_hsa020101.09720481
28SNARE interactions in vesicular transport_Homo sapiens_hsa041301.06096237
29Propanoate metabolism_Homo sapiens_hsa006401.05252056
30Mineral absorption_Homo sapiens_hsa049781.02343802
31Peroxisome_Homo sapiens_hsa041461.01117134
32Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.95995527
33* mTOR signaling pathway_Homo sapiens_hsa041500.93724990
34Dorso-ventral axis formation_Homo sapiens_hsa043200.91085847
35* Regulation of autophagy_Homo sapiens_hsa041400.88664402
36Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87741691
37beta-Alanine metabolism_Homo sapiens_hsa004100.84863031
38Amphetamine addiction_Homo sapiens_hsa050310.84220606
39Glucagon signaling pathway_Homo sapiens_hsa049220.83316742
40Pancreatic secretion_Homo sapiens_hsa049720.77887094
41Sphingolipid metabolism_Homo sapiens_hsa006000.76315311
42Thyroid hormone synthesis_Homo sapiens_hsa049180.75013118
43Phototransduction_Homo sapiens_hsa047440.74936937
44Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.71201360
45Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.69625515
46Galactose metabolism_Homo sapiens_hsa000520.68310913
47Salivary secretion_Homo sapiens_hsa049700.68027578
48Starch and sucrose metabolism_Homo sapiens_hsa005000.67557906
49Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.66634660
50Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.66608491
51Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.66581865
52Folate biosynthesis_Homo sapiens_hsa007900.66136949
53Primary bile acid biosynthesis_Homo sapiens_hsa001200.64550438
54N-Glycan biosynthesis_Homo sapiens_hsa005100.64209312
55Ether lipid metabolism_Homo sapiens_hsa005650.64174665
56Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.62070461
57Lysine degradation_Homo sapiens_hsa003100.61964136
58* Insulin resistance_Homo sapiens_hsa049310.61019303
59Circadian entrainment_Homo sapiens_hsa047130.58721902
60Dopaminergic synapse_Homo sapiens_hsa047280.57335139
61Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.53827344
62Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.52563741
63* AMPK signaling pathway_Homo sapiens_hsa041520.49160887
64Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.47987105
65Bile secretion_Homo sapiens_hsa049760.47379983
66* Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.47086027
67Cocaine addiction_Homo sapiens_hsa050300.47051386
68Steroid biosynthesis_Homo sapiens_hsa001000.46841227
69Lysosome_Homo sapiens_hsa041420.44985385
70Cardiac muscle contraction_Homo sapiens_hsa042600.44828190
71Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.43638000
72Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.43059689
73Linoleic acid metabolism_Homo sapiens_hsa005910.42955522
74Fructose and mannose metabolism_Homo sapiens_hsa000510.42871182
75Serotonergic synapse_Homo sapiens_hsa047260.41941837
76Long-term depression_Homo sapiens_hsa047300.40390172
77Aldosterone synthesis and secretion_Homo sapiens_hsa049250.40143354
78Metabolic pathways_Homo sapiens_hsa011000.37333046
79Rheumatoid arthritis_Homo sapiens_hsa053230.34536768
80Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.34237318
81Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.33666682
82* Ovarian steroidogenesis_Homo sapiens_hsa049130.33497549
83Taste transduction_Homo sapiens_hsa047420.33188819
84alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.32702581
85Glutamatergic synapse_Homo sapiens_hsa047240.30338216
86Inositol phosphate metabolism_Homo sapiens_hsa005620.30026253
87GABAergic synapse_Homo sapiens_hsa047270.29940166
88Caffeine metabolism_Homo sapiens_hsa002320.29850599
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.29785726
90Retinol metabolism_Homo sapiens_hsa008300.28423965
91Arachidonic acid metabolism_Homo sapiens_hsa005900.28274704
92RNA degradation_Homo sapiens_hsa030180.27627023
93Glycosaminoglycan degradation_Homo sapiens_hsa005310.27541929
94Nicotine addiction_Homo sapiens_hsa050330.26845537
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.26153028
96Adipocytokine signaling pathway_Homo sapiens_hsa049200.25571678
97* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.25250363
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.23544509
99Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.23431095
100Alzheimers disease_Homo sapiens_hsa050100.23353835

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