AMY1A

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: Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axonemal dynein complex assembly (GO:0070286)7.67925338
2cilium or flagellum-dependent cell motility (GO:0001539)7.28780977
3epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.22538848
4cilium movement (GO:0003341)6.47990101
5epithelial cilium movement (GO:0003351)6.25354465
6axoneme assembly (GO:0035082)6.10124541
7motile cilium assembly (GO:0044458)5.47050867
8behavioral response to nicotine (GO:0035095)5.00358816
9regulation of cilium movement (GO:0003352)4.96145133
10protein polyglutamylation (GO:0018095)4.11465844
11gamma-aminobutyric acid transport (GO:0015812)4.03442331
12indole-containing compound catabolic process (GO:0042436)3.65600924
13indolalkylamine catabolic process (GO:0046218)3.65600924
14tryptophan catabolic process (GO:0006569)3.65600924
15cilium organization (GO:0044782)3.61483336
16negative regulation of mast cell activation (GO:0033004)3.57831331
17microtubule bundle formation (GO:0001578)3.47663782
18cilium assembly (GO:0042384)3.44648589
19intraciliary transport (GO:0042073)3.43950677
20kynurenine metabolic process (GO:0070189)3.42349168
21primary amino compound metabolic process (GO:1901160)3.33684641
22regulation of microtubule-based movement (GO:0060632)3.31247246
23DNA deamination (GO:0045006)3.26577693
24nonmotile primary cilium assembly (GO:0035058)3.24879183
25neuronal action potential propagation (GO:0019227)3.19699761
26preassembly of GPI anchor in ER membrane (GO:0016254)3.18412947
27photoreceptor cell maintenance (GO:0045494)3.16941120
28detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.16744491
29cilium morphogenesis (GO:0060271)3.16252807
30piRNA metabolic process (GO:0034587)3.13394707
31neural tube formation (GO:0001841)3.11336285
32left/right pattern formation (GO:0060972)3.10969102
33neuronal action potential (GO:0019228)3.08979531
34pyrimidine nucleobase catabolic process (GO:0006208)3.08838385
35cornea development in camera-type eye (GO:0061303)3.08493783
36indolalkylamine metabolic process (GO:0006586)3.05667110
37serotonin metabolic process (GO:0042428)3.05230127
38tryptophan metabolic process (GO:0006568)2.95566298
39response to pheromone (GO:0019236)2.91724647
40neuron fate determination (GO:0048664)2.91688623
41positive regulation of amino acid transport (GO:0051957)2.91603729
42indole-containing compound metabolic process (GO:0042430)2.90633662
43left/right axis specification (GO:0070986)2.89376396
44mitochondrial respiratory chain complex I assembly (GO:0032981)2.88127784
45NADH dehydrogenase complex assembly (GO:0010257)2.88127784
46mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.88127784
47nephron epithelium morphogenesis (GO:0072088)2.86456973
48nephron tubule morphogenesis (GO:0072078)2.86456973
49protein complex biogenesis (GO:0070271)2.81905012
50detection of light stimulus involved in sensory perception (GO:0050962)2.81181627
51detection of light stimulus involved in visual perception (GO:0050908)2.81181627
52negative regulation of oligodendrocyte differentiation (GO:0048715)2.79825893
53fucose catabolic process (GO:0019317)2.79524546
54L-fucose metabolic process (GO:0042354)2.79524546
55L-fucose catabolic process (GO:0042355)2.79524546
56DNA methylation involved in gamete generation (GO:0043046)2.79282278
57aldehyde catabolic process (GO:0046185)2.78740713
58negative regulation of neurotransmitter transport (GO:0051589)2.77162425
59amine catabolic process (GO:0009310)2.75974466
60cellular biogenic amine catabolic process (GO:0042402)2.75974466
61cellular component assembly involved in morphogenesis (GO:0010927)2.75939819
62negative regulation of T cell differentiation in thymus (GO:0033085)2.73998678
63nucleobase catabolic process (GO:0046113)2.73729607
64regulation of action potential (GO:0098900)2.72045687
65negative regulation of transcription regulatory region DNA binding (GO:2000678)2.70602884
66cellular ketone body metabolic process (GO:0046950)2.69703312
67rRNA catabolic process (GO:0016075)2.69336774
68GPI anchor metabolic process (GO:0006505)2.68496218
69mannosylation (GO:0097502)2.67715992
70retinal cone cell development (GO:0046549)2.66711456
71RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.65433989
72tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.65433989
73synaptic transmission, cholinergic (GO:0007271)2.63594223
74response to xenobiotic stimulus (GO:0009410)2.63194115
75negative regulation of amino acid transport (GO:0051956)2.62214069
76positive regulation of oligodendrocyte differentiation (GO:0048714)2.62137374
77central nervous system myelination (GO:0022010)2.60387357
78axon ensheathment in central nervous system (GO:0032291)2.60387357
79positive regulation of catecholamine secretion (GO:0033605)2.58921448
80water-soluble vitamin biosynthetic process (GO:0042364)2.58815400
81protein localization to cilium (GO:0061512)2.58069954
82benzene-containing compound metabolic process (GO:0042537)2.54160099
83ubiquinone biosynthetic process (GO:0006744)2.53273655
84sperm motility (GO:0030317)2.52113192
85ketone body metabolic process (GO:1902224)2.50833322
86platelet dense granule organization (GO:0060155)2.50017497
87positive regulation of organic acid transport (GO:0032892)2.45718984
88mitochondrial respiratory chain complex assembly (GO:0033108)2.45420730
89centriole replication (GO:0007099)2.44250283
90action potential (GO:0001508)2.42387519
91otic vesicle formation (GO:0030916)2.42209371
92negative regulation of neurotransmitter secretion (GO:0046929)2.41286314
93negative regulation of sodium ion transport (GO:0010766)2.39988965
94estrogen biosynthetic process (GO:0006703)2.39000035
95GPI anchor biosynthetic process (GO:0006506)2.38645324
96cytidine deamination (GO:0009972)2.37539302
97cytidine metabolic process (GO:0046087)2.37539302
98cytidine catabolic process (GO:0006216)2.37539302
99exogenous drug catabolic process (GO:0042738)2.37391290
100multicellular organism reproduction (GO:0032504)2.36938034

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.52862891
2VDR_22108803_ChIP-Seq_LS180_Human4.23628426
3ZNF274_21170338_ChIP-Seq_K562_Hela3.55810062
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.90624358
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.59408634
6GBX2_23144817_ChIP-Seq_PC3_Human2.28448917
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.14200020
8FUS_26573619_Chip-Seq_HEK293_Human2.12980522
9CTBP2_25329375_ChIP-Seq_LNCAP_Human2.11997103
10CTBP1_25329375_ChIP-Seq_LNCAP_Human2.08473692
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.05881566
12FLI1_27457419_Chip-Seq_LIVER_Mouse1.92146978
13E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.88211693
14IGF1R_20145208_ChIP-Seq_DFB_Human1.87729252
15P300_19829295_ChIP-Seq_ESCs_Human1.83394421
16ER_23166858_ChIP-Seq_MCF-7_Human1.81929559
17EWS_26573619_Chip-Seq_HEK293_Human1.80001918
18TAF15_26573619_Chip-Seq_HEK293_Human1.73477744
19HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.72087575
20REST_21632747_ChIP-Seq_MESCs_Mouse1.71547834
21BMI1_23680149_ChIP-Seq_NPCS_Mouse1.71252315
22CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.65023431
23EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.62029287
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.56712158
25TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.51943739
26PCGF2_27294783_Chip-Seq_ESCs_Mouse1.48981179
27PIAS1_25552417_ChIP-Seq_VCAP_Human1.47460852
28UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.46630997
29TOP2B_26459242_ChIP-Seq_MCF-7_Human1.44854268
30BCAT_22108803_ChIP-Seq_LS180_Human1.42626213
31RNF2_27304074_Chip-Seq_NSC_Mouse1.38892524
32TP53_22573176_ChIP-Seq_HFKS_Human1.37942274
33* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37303812
34NR3C1_21868756_ChIP-Seq_MCF10A_Human1.34865007
35FOXA1_25329375_ChIP-Seq_VCAP_Human1.33288095
36FOXA1_27270436_Chip-Seq_PROSTATE_Human1.33288095
37DROSHA_22980978_ChIP-Seq_HELA_Human1.32784162
38SMAD4_21799915_ChIP-Seq_A2780_Human1.31588583
39IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.31465533
40CBP_20019798_ChIP-Seq_JUKART_Human1.31465533
41AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.31159536
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.30318941
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29105211
44NANOG_19829295_ChIP-Seq_ESCs_Human1.28858041
45SOX2_19829295_ChIP-Seq_ESCs_Human1.28858041
46SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.28506759
47CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.28403710
48KLF5_20875108_ChIP-Seq_MESCs_Mouse1.26932487
49STAT3_23295773_ChIP-Seq_U87_Human1.26692106
50* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.26367177
51NCOR_22424771_ChIP-Seq_293T_Human1.25397635
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24600193
53MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.23761932
54AR_25329375_ChIP-Seq_VCAP_Human1.21917789
55FOXA1_21572438_ChIP-Seq_LNCaP_Human1.20873966
56RUNX2_22187159_ChIP-Seq_PCA_Human1.20078842
57AR_20517297_ChIP-Seq_VCAP_Human1.18329861
58GATA3_21878914_ChIP-Seq_MCF-7_Human1.17658194
59EZH2_27294783_Chip-Seq_ESCs_Mouse1.17571290
60NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.17452622
61ETV2_25802403_ChIP-Seq_MESCs_Mouse1.16108409
62PRDM14_20953172_ChIP-Seq_ESCs_Human1.15301904
63SMAD3_21741376_ChIP-Seq_EPCs_Human1.15255254
64RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15211452
65TCF4_23295773_ChIP-Seq_U87_Human1.15145912
66SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.13792961
67TAL1_26923725_Chip-Seq_HPCs_Mouse1.13292796
68TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12758649
69POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.12758649
70GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.11738262
71SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10650265
72JARID2_20064375_ChIP-Seq_MESCs_Mouse1.10024686
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09442839
74NFE2_27457419_Chip-Seq_LIVER_Mouse1.09315877
75MYC_18940864_ChIP-ChIP_HL60_Human1.08879241
76SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08686803
77REST_18959480_ChIP-ChIP_MESCs_Mouse1.08335747
78SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.07819768
79SMAD4_21741376_ChIP-Seq_EPCs_Human1.07052034
80TCF4_22108803_ChIP-Seq_LS180_Human1.06983477
81EZH2_27294783_Chip-Seq_NPCs_Mouse1.06954760
82EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.06555418
83CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.05848363
84* ETV1_20927104_ChIP-Seq_GIST48_Human1.04907105
85* PHF8_20622853_ChIP-Seq_HELA_Human1.04576032
86PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.03033433
87SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.02872857
88EED_16625203_ChIP-ChIP_MESCs_Mouse1.01858073
89OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01607570
90PCGF2_27294783_Chip-Seq_NPCs_Mouse1.01391444
91SUZ12_27294783_Chip-Seq_ESCs_Mouse1.00710762
92HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.99702788
93EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.98514847
94TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.98012893
95NANOG_20526341_ChIP-Seq_ESCs_Human0.97380328
96GABP_17652178_ChIP-ChIP_JURKAT_Human0.96911265
97IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.96205959
98FOXH1_21741376_ChIP-Seq_EPCs_Human0.95990772
99P53_22387025_ChIP-Seq_ESCs_Mouse0.95766605
100FLI1_21867929_ChIP-Seq_TH2_Mouse0.95373353

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002653_abnormal_ependyma_morphology3.63726920
2MP0003136_yellow_coat_color2.99417359
3MP0008875_abnormal_xenobiotic_pharmacok2.64298123
4MP0003880_abnormal_central_pattern2.59472584
5MP0002102_abnormal_ear_morphology2.30219869
6MP0005084_abnormal_gallbladder_morpholo2.22605432
7MP0005551_abnormal_eye_electrophysiolog2.19279513
8MP0006276_abnormal_autonomic_nervous2.09158019
9MP0001485_abnormal_pinna_reflex2.03330054
10MP0001968_abnormal_touch/_nociception2.01222135
11MP0002736_abnormal_nociception_after2.01136739
12MP0005645_abnormal_hypothalamus_physiol1.93004540
13MP0009046_muscle_twitch1.91845287
14MP0004142_abnormal_muscle_tone1.91635405
15MP0008877_abnormal_DNA_methylation1.88384991
16MP0001984_abnormal_olfaction1.87846667
17MP0009745_abnormal_behavioral_response1.86448674
18MP0003195_calcinosis1.85683044
19MP0003646_muscle_fatigue1.83567754
20MP0005646_abnormal_pituitary_gland1.79556661
21MP0005377_hearing/vestibular/ear_phenot1.79058430
22MP0003878_abnormal_ear_physiology1.79058430
23MP0004043_abnormal_pH_regulation1.78992794
24MP0002277_abnormal_respiratory_mucosa1.73564063
25MP0000569_abnormal_digit_pigmentation1.67844925
26MP0002272_abnormal_nervous_system1.66311547
27MP0008995_early_reproductive_senescence1.66075215
28MP0008872_abnormal_physiological_respon1.63998490
29MP0000631_abnormal_neuroendocrine_gland1.58501888
30MP0002822_catalepsy1.56136010
31MP0006072_abnormal_retinal_apoptosis1.54267751
32MP0002735_abnormal_chemical_nociception1.51677290
33MP0001970_abnormal_pain_threshold1.50009370
34MP0004133_heterotaxia1.49918740
35MP0001486_abnormal_startle_reflex1.48965930
36MP0002160_abnormal_reproductive_system1.48030436
37MP0005253_abnormal_eye_physiology1.47846500
38MP0003787_abnormal_imprinting1.47347413
39MP0002234_abnormal_pharynx_morphology1.46989924
40MP0004145_abnormal_muscle_electrophysio1.43133319
41MP0003806_abnormal_nucleotide_metabolis1.42262389
42MP0003011_delayed_dark_adaptation1.36849437
43MP0002733_abnormal_thermal_nociception1.35756529
44MP0002572_abnormal_emotion/affect_behav1.33973083
45MP0008789_abnormal_olfactory_epithelium1.33813536
46MP0010386_abnormal_urinary_bladder1.31972860
47MP0004885_abnormal_endolymph1.30585646
48MP0002734_abnormal_mechanical_nocicepti1.29991147
49MP0002928_abnormal_bile_duct1.29260006
50MP0001986_abnormal_taste_sensitivity1.27496225
51MP0005389_reproductive_system_phenotype1.24863294
52MP0002557_abnormal_social/conspecific_i1.19839576
53MP0000372_irregular_coat_pigmentation1.19559611
54MP0004147_increased_porphyrin_level1.18527041
55MP0005075_abnormal_melanosome_morpholog1.17402125
56MP0001501_abnormal_sleep_pattern1.14635331
57MP0002067_abnormal_sensory_capabilities1.13888985
58MP0003635_abnormal_synaptic_transmissio1.13808253
59MP0001905_abnormal_dopamine_level1.09616236
60MP0001963_abnormal_hearing_physiology1.08643488
61MP0002063_abnormal_learning/memory/cond1.08248944
62MP0008961_abnormal_basal_metabolism1.08199216
63MP0002938_white_spotting1.08101221
64MP0002876_abnormal_thyroid_physiology1.07625603
65MP0002064_seizures1.06662780
66MP0005360_urolithiasis1.05956252
67MP0000026_abnormal_inner_ear1.05745206
68MP0002638_abnormal_pupillary_reflex1.04596446
69MP0005195_abnormal_posterior_eye1.03456316
70MP0002837_dystrophic_cardiac_calcinosis1.02234986
71MP0003122_maternal_imprinting1.02091554
72MP0005636_abnormal_mineral_homeostasis1.00226312
73MP0005174_abnormal_tail_pigmentation0.95512753
74MP0002909_abnormal_adrenal_gland0.94951576
75MP0001765_abnormal_ion_homeostasis0.90686120
76MP0000778_abnormal_nervous_system0.89275031
77MP0001529_abnormal_vocalization0.89217135
78MP0000383_abnormal_hair_follicle0.89015423
79MP0002138_abnormal_hepatobiliary_system0.88928750
80MP0000955_abnormal_spinal_cord0.88808314
81MP0001324_abnormal_eye_pigmentation0.88473650
82MP0002229_neurodegeneration0.88106304
83MP0001919_abnormal_reproductive_system0.87693672
84MP0009384_cardiac_valve_regurgitation0.87084429
85MP0004742_abnormal_vestibular_system0.86895271
86MP0005386_behavior/neurological_phenoty0.86559192
87MP0004924_abnormal_behavior0.86559192
88MP0002282_abnormal_trachea_morphology0.86540869
89MP0001664_abnormal_digestion0.85988468
90MP0000230_abnormal_systemic_arterial0.85548468
91MP0002752_abnormal_somatic_nervous0.84519010
92MP0003137_abnormal_impulse_conducting0.84329851
93MP0005499_abnormal_olfactory_system0.83280282
94MP0005394_taste/olfaction_phenotype0.83280282
95MP0002184_abnormal_innervation0.82314628
96MP0003633_abnormal_nervous_system0.81739567
97MP0003718_maternal_effect0.79037692
98MP0003698_abnormal_male_reproductive0.78262705
99MP0005423_abnormal_somatic_nervous0.76080497
100MP0001663_abnormal_digestive_system0.76067192

Predicted human phenotypes

RankGene SetZ-score
1Absent/shortened dynein arms (HP:0200106)7.01716324
2Dynein arm defect of respiratory motile cilia (HP:0012255)7.01716324
3Abnormal respiratory motile cilium morphology (HP:0005938)6.39534687
4Abnormal respiratory epithelium morphology (HP:0012253)6.39534687
5Abnormal ciliary motility (HP:0012262)6.10479172
6Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.78715188
7Abnormal respiratory motile cilium physiology (HP:0012261)5.78655836
8Pancreatic fibrosis (HP:0100732)4.53784622
9Rhinitis (HP:0012384)4.45863088
10True hermaphroditism (HP:0010459)4.43303480
11Abnormality of midbrain morphology (HP:0002418)4.43173586
12Molar tooth sign on MRI (HP:0002419)4.43173586
13Pancreatic cysts (HP:0001737)4.41537023
14Medial flaring of the eyebrow (HP:0010747)4.04007254
15Nephronophthisis (HP:0000090)3.72024095
16Bronchiectasis (HP:0002110)3.46704218
17Gait imbalance (HP:0002141)3.41454790
18Congenital primary aphakia (HP:0007707)3.31587383
19Absent rod-and cone-mediated responses on ERG (HP:0007688)3.20860433
20Chronic bronchitis (HP:0004469)3.17148550
21Nephrogenic diabetes insipidus (HP:0009806)3.12150849
22Cystic liver disease (HP:0006706)3.03409652
23Congenital stationary night blindness (HP:0007642)3.00515802
24Abnormality of the renal medulla (HP:0100957)2.99794543
25Chronic hepatic failure (HP:0100626)2.96489580
26Sclerocornea (HP:0000647)2.72700745
27Abnormal rod and cone electroretinograms (HP:0008323)2.71601439
28Abolished electroretinogram (ERG) (HP:0000550)2.65550899
29Decreased central vision (HP:0007663)2.63000406
30Occipital encephalocele (HP:0002085)2.56048890
31Congenital hepatic fibrosis (HP:0002612)2.52304895
32Abnormality of the renal cortex (HP:0011035)2.51623005
33Chronic sinusitis (HP:0011109)2.49355623
34Type II lissencephaly (HP:0007260)2.48995665
35Vaginal atresia (HP:0000148)2.45867082
36Anencephaly (HP:0002323)2.45694079
37Tubular atrophy (HP:0000092)2.45142610
38Genital tract atresia (HP:0001827)2.43034950
39Poor coordination (HP:0002370)2.39261362
40Polydipsia (HP:0001959)2.32562796
41Abnormal drinking behavior (HP:0030082)2.32562796
42Attenuation of retinal blood vessels (HP:0007843)2.32192221
43Nasal polyposis (HP:0100582)2.28850798
44Gaze-evoked nystagmus (HP:0000640)2.26582452
45Abnormality of the labia minora (HP:0012880)2.24345086
46Abnormality of macular pigmentation (HP:0008002)2.18178947
47Postaxial foot polydactyly (HP:0001830)2.15223007
48Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.14447577
49Abnormality of alanine metabolism (HP:0010916)2.14447577
50Hyperalaninemia (HP:0003348)2.14447577
51Supernumerary spleens (HP:0009799)2.12786895
52Male pseudohermaphroditism (HP:0000037)2.12651936
53Infertility (HP:0000789)2.10907234
54Aplasia/Hypoplasia of the tongue (HP:0010295)2.10256286
55Hyperventilation (HP:0002883)2.08112339
56Recurrent sinusitis (HP:0011108)2.07185457
57Chronic otitis media (HP:0000389)2.06067771
58Postaxial hand polydactyly (HP:0001162)2.03073546
59Furrowed tongue (HP:0000221)2.02157514
60Large for gestational age (HP:0001520)2.01508449
61Progressive cerebellar ataxia (HP:0002073)2.01051112
62Increased corneal curvature (HP:0100692)1.95906444
63Keratoconus (HP:0000563)1.95906444
64Hepatocellular necrosis (HP:0001404)1.95323328
65Lissencephaly (HP:0001339)1.93470113
66Tubulointerstitial nephritis (HP:0001970)1.92271052
67Aplasia/Hypoplasia of the spleen (HP:0010451)1.91891120
68Broad-based gait (HP:0002136)1.91593280
69Inability to walk (HP:0002540)1.90514999
70Type 2 muscle fiber atrophy (HP:0003554)1.89947847
71Mitochondrial inheritance (HP:0001427)1.88023260
72Decreased circulating renin level (HP:0003351)1.87469881
73Left ventricular hypertrophy (HP:0001712)1.86785498
74Asplenia (HP:0001746)1.85242661
75Bronchitis (HP:0012387)1.85091805
76Retinitis pigmentosa (HP:0000510)1.84555603
77Acute necrotizing encephalopathy (HP:0006965)1.83808481
78Genetic anticipation (HP:0003743)1.82625048
79Increased CSF lactate (HP:0002490)1.81216905
80Agitation (HP:0000713)1.81042339
81Optic disc pallor (HP:0000543)1.80586948
82Constricted visual fields (HP:0001133)1.78962484
83Broad foot (HP:0001769)1.78161483
84Specific learning disability (HP:0001328)1.77347313
85Polyuria (HP:0000103)1.77054543
86Focal motor seizures (HP:0011153)1.75579841
87Hepatic necrosis (HP:0002605)1.73699010
88Tubulointerstitial abnormality (HP:0001969)1.72846524
89Bile duct proliferation (HP:0001408)1.71719551
90Abnormal biliary tract physiology (HP:0012439)1.71719551
91Abnormality of the nasal mucosa (HP:0000433)1.71476312
92Aplasia/Hypoplasia of the tibia (HP:0005772)1.70369095
93Protruding tongue (HP:0010808)1.69698227
94Elevated erythrocyte sedimentation rate (HP:0003565)1.67649721
95Acute encephalopathy (HP:0006846)1.65721271
96Decreased electroretinogram (ERG) amplitude (HP:0000654)1.65684759
97Aplasia/Hypoplasia of the lens (HP:0008063)1.63411096
98Abnormal mitochondria in muscle tissue (HP:0008316)1.63406182
99Preaxial hand polydactyly (HP:0001177)1.63232920
100Cerebellar dysplasia (HP:0007033)1.62643853

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.51551967
2MAP4K24.00228024
3FRK3.97908227
4MAPK153.08511919
5PINK12.61065323
6ADRBK22.59311091
7BMPR1B2.52500396
8TAOK32.37701272
9WNK42.35702106
10NUAK12.21683632
11MAP3K42.15668118
12GRK11.91968715
13EIF2AK31.87835630
14TXK1.83272830
15EPHA31.70178299
16DYRK21.67624455
17MAP2K71.66383499
18PNCK1.57598314
19MAPK131.56367770
20WNK31.49161747
21STK391.40111647
22MARK11.31077023
23CASK1.25605339
24NTRK21.24842963
25ZAK1.21763924
26MAPKAPK31.21701206
27CAMKK21.16007679
28TNIK1.15753416
29MST41.14155715
30TLK11.13384077
31DAPK21.11307355
32OXSR11.10008317
33ADRBK11.04105581
34TRIM280.98341004
35PRKCG0.95813381
36CDK190.95710717
37TEC0.90704149
38TIE10.87319373
39INSRR0.85935758
40PAK30.83364284
41MAPKAPK50.83115950
42ACVR1B0.82249078
43MKNK20.80290843
44VRK10.77247604
45PRKCQ0.75766320
46DAPK10.75727129
47PRKCE0.73474311
48TSSK60.70426757
49BCR0.68822973
50CCNB10.67551176
51CSNK1G20.65663565
52LIMK10.64872793
53ERBB30.62687963
54VRK20.61152747
55MUSK0.60865663
56MINK10.59865647
57KIT0.59465982
58OBSCN0.58762193
59IKBKB0.58395597
60SGK20.57111984
61SGK2230.56420748
62SGK4940.56420748
63PIK3CG0.56140235
64TGFBR10.55084854
65PRKACA0.55004722
66RPS6KA40.54802869
67FLT30.53804489
68RPS6KA50.52270932
69GRK50.50869617
70CAMKK10.50296981
71ITK0.49623705
72IKBKE0.49239570
73NME10.48229500
74CSNK1G30.47831802
75CHUK0.47763139
76CAMK2A0.47631725
77STK110.45231157
78PHKG20.44584201
79PHKG10.44584201
80IRAK10.42344419
81PLK20.42020809
82PRKCA0.42017020
83SIK20.41080971
84PRKAA20.40656340
85PTK2B0.40004041
86PIM10.39223169
87CAMK10.37679781
88NEK20.37170824
89SYK0.35874384
90PRKCD0.35350607
91MAP2K40.34643427
92PKN10.34381103
93EIF2AK20.33453842
94ERBB20.32846111
95PIK3CA0.32761454
96PRKCZ0.32521926
97CSNK1A10.31692490
98ABL10.31436179
99MAP3K120.29978456
100EPHA40.29333431

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.76526320
2Linoleic acid metabolism_Homo sapiens_hsa005912.37749685
3Propanoate metabolism_Homo sapiens_hsa006402.25246674
4Asthma_Homo sapiens_hsa053102.24029897
5Butanoate metabolism_Homo sapiens_hsa006502.23818334
6Intestinal immune network for IgA production_Homo sapiens_hsa046722.15731155
7Oxidative phosphorylation_Homo sapiens_hsa001902.11777394
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.10826854
9Caffeine metabolism_Homo sapiens_hsa002322.08438772
10Nicotine addiction_Homo sapiens_hsa050332.05462738
11alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.99070671
12Sulfur relay system_Homo sapiens_hsa041221.88979233
13Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.86250564
14Chemical carcinogenesis_Homo sapiens_hsa052041.80413949
15Phototransduction_Homo sapiens_hsa047441.79289676
16Maturity onset diabetes of the young_Homo sapiens_hsa049501.78299656
17Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.68279396
18Parkinsons disease_Homo sapiens_hsa050121.66576821
19Huntingtons disease_Homo sapiens_hsa050161.65107047
20Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.64430098
21Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.62718672
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.60547872
23Olfactory transduction_Homo sapiens_hsa047401.58645583
24Allograft rejection_Homo sapiens_hsa053301.57356687
25Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.57151453
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.55226516
27Selenocompound metabolism_Homo sapiens_hsa004501.50649303
28Nitrogen metabolism_Homo sapiens_hsa009101.47177812
29Autoimmune thyroid disease_Homo sapiens_hsa053201.43762638
30Peroxisome_Homo sapiens_hsa041461.43400899
31Tryptophan metabolism_Homo sapiens_hsa003801.43291450
32Taste transduction_Homo sapiens_hsa047421.42641055
33Type I diabetes mellitus_Homo sapiens_hsa049401.42189424
34Ether lipid metabolism_Homo sapiens_hsa005651.41748961
35Cardiac muscle contraction_Homo sapiens_hsa042601.40687500
36Steroid hormone biosynthesis_Homo sapiens_hsa001401.39447295
37* Salivary secretion_Homo sapiens_hsa049701.34906319
38Graft-versus-host disease_Homo sapiens_hsa053321.33393493
39RNA polymerase_Homo sapiens_hsa030201.28337424
40Retinol metabolism_Homo sapiens_hsa008301.24443332
41Morphine addiction_Homo sapiens_hsa050321.22160139
42Protein export_Homo sapiens_hsa030601.20969752
43* Starch and sucrose metabolism_Homo sapiens_hsa005001.19699861
44* Carbohydrate digestion and absorption_Homo sapiens_hsa049731.19146752
45beta-Alanine metabolism_Homo sapiens_hsa004101.16480273
46Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.13999771
47Histidine metabolism_Homo sapiens_hsa003401.11270949
48Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.10905353
49GABAergic synapse_Homo sapiens_hsa047270.98959925
50Serotonergic synapse_Homo sapiens_hsa047260.98235174
51Alzheimers disease_Homo sapiens_hsa050100.97966661
52Circadian entrainment_Homo sapiens_hsa047130.92615634
53Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.91380372
54ABC transporters_Homo sapiens_hsa020100.91250560
55Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.89059620
56Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88243810
57Glutamatergic synapse_Homo sapiens_hsa047240.87317287
58Primary bile acid biosynthesis_Homo sapiens_hsa001200.85651906
59Rheumatoid arthritis_Homo sapiens_hsa053230.84796589
60Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.84735814
61Arachidonic acid metabolism_Homo sapiens_hsa005900.84689870
62Ovarian steroidogenesis_Homo sapiens_hsa049130.83574804
63Collecting duct acid secretion_Homo sapiens_hsa049660.81662732
64Fatty acid biosynthesis_Homo sapiens_hsa000610.81578517
65Regulation of autophagy_Homo sapiens_hsa041400.78518849
66Pentose and glucuronate interconversions_Homo sapiens_hsa000400.78183601
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.74977231
68Fanconi anemia pathway_Homo sapiens_hsa034600.74927688
69Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.74648926
70One carbon pool by folate_Homo sapiens_hsa006700.74199244
71Primary immunodeficiency_Homo sapiens_hsa053400.69022665
72Dopaminergic synapse_Homo sapiens_hsa047280.68216355
73* Metabolic pathways_Homo sapiens_hsa011000.66870805
74RNA degradation_Homo sapiens_hsa030180.66257548
75Antigen processing and presentation_Homo sapiens_hsa046120.64143218
76Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.62385302
77Basal transcription factors_Homo sapiens_hsa030220.62098673
78Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.59487764
79Purine metabolism_Homo sapiens_hsa002300.56743407
80Glycerolipid metabolism_Homo sapiens_hsa005610.55045674
81Calcium signaling pathway_Homo sapiens_hsa040200.53456651
82Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.52720958
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50016814
84Cysteine and methionine metabolism_Homo sapiens_hsa002700.48831837
85Ribosome_Homo sapiens_hsa030100.48768930
86Sulfur metabolism_Homo sapiens_hsa009200.47873666
87Steroid biosynthesis_Homo sapiens_hsa001000.47802129
88Tyrosine metabolism_Homo sapiens_hsa003500.46527483
89Fat digestion and absorption_Homo sapiens_hsa049750.46284754
90Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.44609442
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44571664
92Homologous recombination_Homo sapiens_hsa034400.44230718
93Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.43617869
94Proteasome_Homo sapiens_hsa030500.40949660
95Fatty acid degradation_Homo sapiens_hsa000710.39581304
96Synaptic vesicle cycle_Homo sapiens_hsa047210.37741916
97Arginine and proline metabolism_Homo sapiens_hsa003300.37563608
98Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.36828348
99Hematopoietic cell lineage_Homo sapiens_hsa046400.34165586
100Long-term depression_Homo sapiens_hsa047300.32686557

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