MT1B

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: The protein encoded by this gene binds heavy metals and protects against toxicity from heavy metal ions. This gene is found in a cluster of similar genes on chromosome 16. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of triglyceride catabolic process (GO:0010896)9.60468895
2phospholipid efflux (GO:0033700)8.89259078
3high-density lipoprotein particle remodeling (GO:0034375)8.80732115
4reverse cholesterol transport (GO:0043691)7.66550091
5triglyceride-rich lipoprotein particle remodeling (GO:0034370)7.07718311
6cholesterol efflux (GO:0033344)6.75914965
7regulation of cholesterol esterification (GO:0010872)6.75037961
8protein-lipid complex remodeling (GO:0034368)6.65542397
9macromolecular complex remodeling (GO:0034367)6.65542397
10plasma lipoprotein particle remodeling (GO:0034369)6.65542397
11* cellular response to zinc ion (GO:0071294)6.65497056
12very-low-density lipoprotein particle assembly (GO:0034379)6.52921906
13negative regulation of sterol transport (GO:0032372)6.50807920
14negative regulation of cholesterol transport (GO:0032375)6.50807920
15plasma lipoprotein particle assembly (GO:0034377)6.47853597
16drug catabolic process (GO:0042737)6.25479898
17L-phenylalanine catabolic process (GO:0006559)6.23767063
18erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.23767063
19protein carboxylation (GO:0018214)6.16850080
20peptidyl-glutamic acid carboxylation (GO:0017187)6.16850080
21omega-hydroxylase P450 pathway (GO:0097267)6.04541484
22epoxygenase P450 pathway (GO:0019373)6.01424540
23exogenous drug catabolic process (GO:0042738)5.96035846
24L-phenylalanine metabolic process (GO:0006558)5.85542702
25erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.85542702
26positive regulation of triglyceride lipase activity (GO:0061365)5.85069182
27positive regulation of lipoprotein lipase activity (GO:0051006)5.85069182
28protein-lipid complex assembly (GO:0065005)5.79619325
29negative regulation of lipase activity (GO:0060192)5.36826225
30complement activation, alternative pathway (GO:0006957)5.19462947
31regulation of fibrinolysis (GO:0051917)5.18644699
32aromatic amino acid family catabolic process (GO:0009074)5.18065163
33glyoxylate metabolic process (GO:0046487)5.15897210
34triglyceride homeostasis (GO:0070328)5.01243264
35acylglycerol homeostasis (GO:0055090)5.01243264
36plasma lipoprotein particle organization (GO:0071827)4.97780231
37cellular response to cadmium ion (GO:0071276)4.91732260
38plasma lipoprotein particle clearance (GO:0034381)4.88812404
39drug metabolic process (GO:0017144)4.86610159
40regulation of protein activation cascade (GO:2000257)4.81455955
41protein-lipid complex subunit organization (GO:0071825)4.69656892
42opsonization (GO:0008228)4.69223635
43regulation of complement activation (GO:0030449)4.63691385
44ethanol oxidation (GO:0006069)4.62670975
45regulation of lipoprotein particle clearance (GO:0010984)4.37301711
46positive regulation of lipid catabolic process (GO:0050996)4.35983711
47negative regulation of fatty acid biosynthetic process (GO:0045717)4.24213971
48indole-containing compound catabolic process (GO:0042436)4.24107918
49indolalkylamine catabolic process (GO:0046218)4.24107918
50tryptophan catabolic process (GO:0006569)4.24107918
51fibrinolysis (GO:0042730)4.22397677
52negative regulation of fibrinolysis (GO:0051918)4.19326515
53regulation of triglyceride metabolic process (GO:0090207)4.01096719
54cytolysis (GO:0019835)3.98821874
55imidazole-containing compound metabolic process (GO:0052803)3.96421904
56S-adenosylmethionine metabolic process (GO:0046500)3.95742396
57regulation of lipoprotein metabolic process (GO:0050746)3.95294361
58blood coagulation, intrinsic pathway (GO:0007597)3.93278673
59cholesterol transport (GO:0030301)3.90746197
60sterol transport (GO:0015918)3.90746197
61positive regulation of fatty acid biosynthetic process (GO:0045723)3.90317632
62glucosamine-containing compound catabolic process (GO:1901072)3.88609803
63serine family amino acid catabolic process (GO:0009071)3.85217283
64production of molecular mediator involved in inflammatory response (GO:0002532)3.82959113
65lipoprotein metabolic process (GO:0042157)3.75012510
66bile acid and bile salt transport (GO:0015721)3.71316204
67positive regulation of triglyceride metabolic process (GO:0090208)3.65152339
68amine catabolic process (GO:0009310)3.59242356
69cellular biogenic amine catabolic process (GO:0042402)3.59242356
70oxidative demethylation (GO:0070989)3.57367149
71protein activation cascade (GO:0072376)3.55878818
72regulation of sterol transport (GO:0032371)3.54158330
73regulation of cholesterol transport (GO:0032374)3.54158330
74positive regulation of chemokine secretion (GO:0090197)3.53443039
75ethanol metabolic process (GO:0006067)3.51064405
76tryptophan metabolic process (GO:0006568)3.50264708
77phenylpropanoid metabolic process (GO:0009698)3.44324824
78urea metabolic process (GO:0019627)3.42464402
79cell wall macromolecule metabolic process (GO:0044036)3.42044366
80tyrosine metabolic process (GO:0006570)3.41059503
81water-soluble vitamin biosynthetic process (GO:0042364)3.39994297
82aromatic amino acid family metabolic process (GO:0009072)3.36904112
83glutamine family amino acid biosynthetic process (GO:0009084)3.36625664
84regulation of fatty acid biosynthetic process (GO:0042304)3.31745993
85complement activation (GO:0006956)3.31504078
86cholesterol homeostasis (GO:0042632)3.28388870
87regulation of lipoprotein lipase activity (GO:0051004)3.26540073
88negative regulation of lipid catabolic process (GO:0050995)3.25583365
89glycine metabolic process (GO:0006544)3.25216042
90negative regulation of hemostasis (GO:1900047)3.24543554
91negative regulation of blood coagulation (GO:0030195)3.24543554
92neutral lipid catabolic process (GO:0046461)3.23406562
93acylglycerol catabolic process (GO:0046464)3.23406562
94sterol homeostasis (GO:0055092)3.21239741
95regulation of chemokine secretion (GO:0090196)3.20640759
96regulation of humoral immune response (GO:0002920)3.20522080
97bile acid metabolic process (GO:0008206)3.20483676
98L-ascorbic acid metabolic process (GO:0019852)3.18039628
99negative regulation of receptor-mediated endocytosis (GO:0048261)3.17934411
100nitrogen cycle metabolic process (GO:0071941)3.15479623

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.10837661
2EGR1_23403033_ChIP-Seq_LIVER_Mouse5.41404975
3CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.35498169
4RXR_22158963_ChIP-Seq_LIVER_Mouse4.64772836
5CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.41177355
6PPARA_22158963_ChIP-Seq_LIVER_Mouse4.01634156
7LXR_22158963_ChIP-Seq_LIVER_Mouse3.67990175
8E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.60530272
9IRF8_22096565_ChIP-ChIP_GC-B_Human3.26550497
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human3.15906807
11PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.97897806
12FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.93172582
13GATA1_22025678_ChIP-Seq_K562_Human2.89062573
14STAT6_21828071_ChIP-Seq_BEAS2B_Human2.28367684
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.16881325
16SRY_22984422_ChIP-ChIP_TESTIS_Rat1.94006091
17NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.93425156
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.81054883
19ELF1_20517297_ChIP-Seq_JURKAT_Human1.78788474
20RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.69150225
21HNF4A_19822575_ChIP-Seq_HepG2_Human1.63671296
22KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.60701509
23BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.57201643
24HTT_18923047_ChIP-ChIP_STHdh_Human1.53675701
25LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.52477260
26IKZF1_21737484_ChIP-ChIP_HCT116_Human1.41531843
27NANOG_20526341_ChIP-Seq_ESCs_Human1.35814787
28CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.35738883
29STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.35599050
30BCAT_22108803_ChIP-Seq_LS180_Human1.33745249
31NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.33456376
32IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.31994221
33ERG_20517297_ChIP-Seq_VCAP_Human1.23436965
34FOXH1_21741376_ChIP-Seq_EPCs_Human1.22557040
35E2F1_20622854_ChIP-Seq_HELA_Human1.21311548
36IRF8_21731497_ChIP-ChIP_J774_Mouse1.19408537
37CTCF_20526341_ChIP-Seq_ESCs_Human1.18762036
38PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.16756173
39TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16080665
40FOXA1_27270436_Chip-Seq_PROSTATE_Human1.15366279
41FOXA1_25329375_ChIP-Seq_VCAP_Human1.15366279
42RAC3_21632823_ChIP-Seq_H3396_Human1.14725644
43NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.14020278
44FOXA2_19822575_ChIP-Seq_HepG2_Human1.13136351
45GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.10229849
46PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.09305644
47EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.09277176
48P300_27268052_Chip-Seq_Bcells_Human1.09039478
49RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.08483536
50CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.08104766
51HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.05459815
52TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.05365633
53YY1_22570637_ChIP-Seq_MALME-3M_Human1.04892461
54BCOR_27268052_Chip-Seq_Bcells_Human1.04504411
55BP1_19119308_ChIP-ChIP_Hs578T_Human1.04375332
56STAT4_19710469_ChIP-ChIP_TH1__Mouse1.04245164
57CSB_26484114_Chip-Seq_FIBROBLAST_Human1.03324990
58TAF2_19829295_ChIP-Seq_ESCs_Human1.02599235
59GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.01558577
60MYC_19829295_ChIP-Seq_ESCs_Human1.01355708
61TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.01167067
62SA1_27219007_Chip-Seq_Bcells_Human1.00549893
63SPI1_20517297_ChIP-Seq_HL60_Human0.98197288
64JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.97864623
65BCL6_27268052_Chip-Seq_Bcells_Human0.97571519
66* NCOR_22424771_ChIP-Seq_293T_Human0.97330144
67CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.97321267
68AR_20517297_ChIP-Seq_VCAP_Human0.96170731
69SOX2_20726797_ChIP-Seq_SW620_Human0.95658379
70GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.93953803
71GATA6_21074721_ChIP-Seq_CACO-2_Human0.93906062
72GATA4_25053715_ChIP-Seq_YYC3_Human0.93523368
73FOXH1_21741376_ChIP-Seq_ESCs_Human0.91277256
74PHF8_20622853_ChIP-Seq_HELA_Human0.90443523
75EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.89252742
76HNFA_21074721_ChIP-Seq_CACO-2_Human0.87782704
77VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.87412943
78SOX2_21211035_ChIP-Seq_LN229_Human0.87253532
79SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.87011914
80ETV2_25802403_ChIP-Seq_MESCs_Mouse0.86456393
81TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.85801182
82RAD21_21589869_ChIP-Seq_MESCs_Mouse0.85765411
83SRF_21415370_ChIP-Seq_HL-1_Mouse0.85486346
84CBP_21632823_ChIP-Seq_H3396_Human0.84067734
85CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.83959124
86PHF8_20622854_ChIP-Seq_HELA_Human0.83753887
87AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83335904
88LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.82684956
89CEBPB_22108803_ChIP-Seq_LS180_Human0.82175676
90LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.82111029
91ERA_21632823_ChIP-Seq_H3396_Human0.81401659
92LXR_22292898_ChIP-Seq_THP-1_Human0.80575165
93KAP1_22055183_ChIP-Seq_ESCs_Mouse0.80256897
94P68_20966046_ChIP-Seq_HELA_Human0.80088986
95OCT4_20526341_ChIP-Seq_ESCs_Human0.78665105
96SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78183546
97RBPJ_21746931_ChIP-Seq_IB4_Human0.78107936
98AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.77037854
99PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.76826068
100CDX2_20551321_ChIP-Seq_CACO-2_Human0.76280184

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009840_abnormal_foam_cell8.84504003
2MP0005360_urolithiasis7.23414877
3MP0002139_abnormal_hepatobiliary_system5.20811025
4MP0003195_calcinosis4.57836728
5MP0008875_abnormal_xenobiotic_pharmacok4.25102124
6MP0010329_abnormal_lipoprotein_level3.53791407
7MP0005085_abnormal_gallbladder_physiolo3.42844804
8MP0005365_abnormal_bile_salt3.03258117
9MP0003806_abnormal_nucleotide_metabolis2.88120327
10MP0005332_abnormal_amino_acid2.85846378
11MP0003191_abnormal_cellular_cholesterol2.56618858
12MP0002876_abnormal_thyroid_physiology2.41898285
13MP0001666_abnormal_nutrient_absorption2.27977539
14MP0004019_abnormal_vitamin_homeostasis2.09627318
15MP0003252_abnormal_bile_duct2.07122174
16MP0002138_abnormal_hepatobiliary_system2.01005010
17MP0003878_abnormal_ear_physiology1.96671245
18MP0005377_hearing/vestibular/ear_phenot1.96671245
19MP0001764_abnormal_homeostasis1.69614412
20MP0009785_altered_susceptibility_to1.64181380
21MP0009643_abnormal_urine_homeostasis1.59976972
22MP0002118_abnormal_lipid_homeostasis1.57510626
23MP0003186_abnormal_redox_activity1.49402387
24MP0000609_abnormal_liver_physiology1.45643484
25MP0004270_analgesia1.42939295
26MP0006072_abnormal_retinal_apoptosis1.33171848
27MP0006036_abnormal_mitochondrial_physio1.29822806
28MP0006082_CNS_inflammation1.25971054
29MP0010368_abnormal_lymphatic_system1.24007233
30MP0005551_abnormal_eye_electrophysiolog1.16622433
31MP0005636_abnormal_mineral_homeostasis1.16061133
32MP0009697_abnormal_copulation1.15243439
33MP0005670_abnormal_white_adipose1.13048206
34MP0000678_abnormal_parathyroid_gland1.08920468
35MP0008469_abnormal_protein_level1.06188970
36MP0009764_decreased_sensitivity_to1.03986031
37MP0005448_abnormal_energy_balance1.03348152
38MP0002971_abnormal_brown_adipose1.02533530
39MP0005584_abnormal_enzyme/coenzyme_acti1.02082428
40MP0005671_abnormal_response_to1.00649467
41MP0009642_abnormal_blood_homeostasis1.00029799
42MP0002078_abnormal_glucose_homeostasis0.93159745
43MP0002132_abnormal_respiratory_system0.91170590
44MP0002909_abnormal_adrenal_gland0.90665569
45MP0008872_abnormal_physiological_respon0.88233741
46MP0009763_increased_sensitivity_to0.88044852
47MP0005535_abnormal_body_temperature0.87202809
48MP0005376_homeostasis/metabolism_phenot0.84696285
49MP0003011_delayed_dark_adaptation0.84194785
50MP0001835_abnormal_antigen_presentation0.82817988
51MP0002254_reproductive_system_inflammat0.81824458
52MP0010155_abnormal_intestine_physiology0.81183607
53MP0003690_abnormal_glial_cell0.81016180
54MP0005464_abnormal_platelet_physiology0.80745007
55MP0005395_other_phenotype0.78809290
56MP0005334_abnormal_fat_pad0.78574715
57MP0002822_catalepsy0.77260308
58MP0001845_abnormal_inflammatory_respons0.77006969
59MP0005379_endocrine/exocrine_gland_phen0.76660261
60MP0009333_abnormal_splenocyte_physiolog0.76465835
61MP0000604_amyloidosis0.75746925
62MP0003045_fibrosis0.74872285
63MP0005164_abnormal_response_to0.73164923
64MP0001756_abnormal_urination0.71990599
65MP0005058_abnormal_lysosome_morphology0.71957624
66MP0005025_abnormal_response_to0.71584201
67MP0003436_decreased_susceptibility_to0.71277532
68MP0002136_abnormal_kidney_physiology0.70889879
69MP0003879_abnormal_hair_cell0.70744124
70MP0000685_abnormal_immune_system0.70565755
71MP0002295_abnormal_pulmonary_circulatio0.70279405
72MP0005408_hypopigmentation0.69824097
73MP0005000_abnormal_immune_tolerance0.69345301
74MP0000639_abnormal_adrenal_gland0.69207178
75MP0002148_abnormal_hypersensitivity_rea0.69131628
76MP0000249_abnormal_blood_vessel0.68272235
77MP0002168_other_aberrant_phenotype0.67178884
78MP0005319_abnormal_enzyme/_coenzyme0.66780446
79MP0003868_abnormal_feces_composition0.65858616
80MP0000598_abnormal_liver_morphology0.65364678
81MP0004145_abnormal_muscle_electrophysio0.63075415
82MP0003638_abnormal_response/metabolism_0.62943442
83MP0004142_abnormal_muscle_tone0.62842042
84MP0005387_immune_system_phenotype0.62538759
85MP0001790_abnormal_immune_system0.62538759
86MP0003718_maternal_effect0.60723568
87MP0002693_abnormal_pancreas_physiology0.60384628
88MP0003953_abnormal_hormone_level0.59157891
89MP0001800_abnormal_humoral_immune0.58800092
90MP0004883_abnormal_blood_vessel0.57082531
91MP0002837_dystrophic_cardiac_calcinosis0.56374157
92MP0005166_decreased_susceptibility_to0.55354892
93MP0003646_muscle_fatigue0.52076982
94MP0002163_abnormal_gland_morphology0.51270286
95MP0005266_abnormal_metabolism0.51093101
96MP0002090_abnormal_vision0.51044524
97MP0002419_abnormal_innate_immunity0.50859062
98MP0003075_altered_response_to0.50445846
99MP0009765_abnormal_xenobiotic_induced0.50058901
100MP0002970_abnormal_white_adipose0.50013140

Predicted human phenotypes

RankGene SetZ-score
1Hyperlipoproteinemia (HP:0010980)8.19817052
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.56293834
3Prolonged partial thromboplastin time (HP:0003645)7.44055449
4Abnormality of monocarboxylic acid metabolism (HP:0010996)7.35486155
5Deep venous thrombosis (HP:0002625)6.60161212
6Complement deficiency (HP:0004431)6.12887332
7Abnormality of pyrimidine metabolism (HP:0004353)5.90608951
8Hypolipoproteinemia (HP:0010981)5.80591756
9Joint hemorrhage (HP:0005261)5.67839496
10Abnormality of complement system (HP:0005339)5.01598005
11Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.68742960
12Systemic lupus erythematosus (HP:0002725)4.59329648
13Hyperglycinemia (HP:0002154)4.12453505
14Abnormality of the common coagulation pathway (HP:0010990)3.88070609
15Malnutrition (HP:0004395)3.82309859
16Conjugated hyperbilirubinemia (HP:0002908)3.81024277
17Pigmentary retinal degeneration (HP:0001146)3.68283225
18Recurrent gram-negative bacterial infections (HP:0005420)3.44664695
19Xanthomatosis (HP:0000991)3.32732193
20Hypoalphalipoproteinemia (HP:0003233)3.32094107
21Delayed CNS myelination (HP:0002188)3.28978333
22Gingival bleeding (HP:0000225)3.26387735
23Hyperammonemia (HP:0001987)3.17426131
24Spontaneous abortion (HP:0005268)3.14088574
25Abnormality of methionine metabolism (HP:0010901)3.08430711
26Nausea (HP:0002018)2.94802524
27Increased serum ferritin (HP:0003281)2.94202971
28Abnormality of macrophages (HP:0004311)2.88745504
29Generalized aminoaciduria (HP:0002909)2.87633124
30Tetany (HP:0001281)2.86956894
31Abnormality of nucleobase metabolism (HP:0010932)2.78724976
32Hypomagnesemia (HP:0002917)2.77957707
33Metabolic acidosis (HP:0001942)2.76907346
34Abnormality of serine family amino acid metabolism (HP:0010894)2.74179831
35Abnormality of glycine metabolism (HP:0010895)2.74179831
36Abnormality of magnesium homeostasis (HP:0004921)2.73567792
37Arthropathy (HP:0003040)2.72997281
38Vascular calcification (HP:0004934)2.66633225
39Abnormality of iron homeostasis (HP:0011031)2.60129914
40Abnormality of the intrinsic pathway (HP:0010989)2.58564810
41Prolonged neonatal jaundice (HP:0006579)2.56749130
42Vacuolated lymphocytes (HP:0001922)2.56003993
43Abnormality of glutamine family amino acid metabolism (HP:0010902)2.55924970
44Glomerulonephritis (HP:0000099)2.51025229
45Abnormality of transition element cation homeostasis (HP:0011030)2.44538368
46Intrahepatic cholestasis (HP:0001406)2.38194551
47Menorrhagia (HP:0000132)2.34022351
48Cardiovascular calcification (HP:0011915)2.33918379
49Fat malabsorption (HP:0002630)2.31621498
50Abnormality of aspartate family amino acid metabolism (HP:0010899)2.29090316
51Mitral stenosis (HP:0001718)2.26717738
52Abnormality of sulfur amino acid metabolism (HP:0004339)2.21027445
53Neonatal hypoglycemia (HP:0001998)2.17787167
54Acute encephalopathy (HP:0006846)2.16773450
55Hyperphosphaturia (HP:0003109)2.14215468
56Absent rod-and cone-mediated responses on ERG (HP:0007688)2.12402430
57Ketosis (HP:0001946)2.10768479
58Steatorrhea (HP:0002570)2.07952894
59Abnormality of serum amino acid levels (HP:0003112)2.07674677
60Joint swelling (HP:0001386)2.06563420
61Pancreatitis (HP:0001733)2.04529088
62Cerebral edema (HP:0002181)2.01884135
63Abnormal rod and cone electroretinograms (HP:0008323)2.01711118
64Hypobetalipoproteinemia (HP:0003563)10.1222577
65Hyperglycinuria (HP:0003108)1.97689304
66Hyperbilirubinemia (HP:0002904)1.96417733
67Retinal atrophy (HP:0001105)1.96264224
68Attenuation of retinal blood vessels (HP:0007843)1.94110852
69Amyloidosis (HP:0011034)1.92520962
70Nephritis (HP:0000123)1.92156109
71Hepatic necrosis (HP:0002605)1.84551154
72Hepatocellular necrosis (HP:0001404)1.82823813
73Lethargy (HP:0001254)1.81066373
74Glycosuria (HP:0003076)1.80578322
75Abnormality of urine glucose concentration (HP:0011016)1.80578322
76Acute necrotizing encephalopathy (HP:0006965)1.79460853
77Mitochondrial inheritance (HP:0001427)1.78827990
78Opisthotonus (HP:0002179)1.78722547
79Congenital sensorineural hearing impairment (HP:0008527)1.78135681
80Irritability (HP:0000737)1.77863586
81Thrombophlebitis (HP:0004418)1.77777179
82Fair hair (HP:0002286)1.76443580
83Severe visual impairment (HP:0001141)1.73826559
84Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.71367436
85Decreased activity of mitochondrial respiratory chain (HP:0008972)1.71367436
86Abnormal mitochondria in muscle tissue (HP:0008316)1.70969950
873-Methylglutaconic aciduria (HP:0003535)1.70633129
88Proximal tubulopathy (HP:0000114)1.68206142
89Abnormal urine phosphate concentration (HP:0012599)1.66599686
90Choroideremia (HP:0001139)1.61937993
91Optic disc pallor (HP:0000543)1.61087518
92Vomiting (HP:0002013)1.58881728
93Purpura (HP:0000979)1.58240852
94Abnormality of calcium-phosphate metabolism (HP:0100530)1.57514144
95Alkalosis (HP:0001948)1.55212048
96Hypochromic microcytic anemia (HP:0004840)1.55026004
97Abnormality of vitamin metabolism (HP:0100508)1.52728132
98Nephrolithiasis (HP:0000787)1.51917689
99Abnormality of dicarboxylic acid metabolism (HP:0010995)1.51693463
100Dicarboxylic aciduria (HP:0003215)1.51693463

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PIK3CG7.48700883
2MUSK6.67292655
3TESK25.46251175
4MAP3K125.10600683
5BCKDK3.38336242
6KDR3.15187167
7MAP4K12.80046377
8MAP3K112.25018236
9LIMK12.05780289
10TAOK31.82122617
11ERN11.80884465
12ACVR1B1.73257154
13ARAF1.61681436
14MYLK1.43823844
15CSF1R1.41251783
16MST41.32320743
17BLK1.30069944
18ABL21.21049066
19TYK21.19780545
20NLK1.14148236
21EPHA31.11546856
22WNK31.10039916
23MAPKAPK31.03757533
24LMTK21.00526362
25FGFR41.00262087
26TESK10.99362350
27ADRBK20.97631297
28GRK10.97105800
29EPHB10.94638186
30ZAP700.93095007
31ADRBK10.87523439
32TAOK20.87191637
33GRK70.82016049
34MAP3K90.78139426
35MAPK110.76058607
36IRAK20.73373816
37IRAK10.71081119
38DAPK10.70770152
39FRK0.69103809
40FGFR20.68166713
41NME10.66553306
42MAP3K10.65865608
43MARK30.62677062
44PRKCG0.62427480
45MAP3K130.61263831
46ILK0.61213682
47ITK0.61083837
48PRKCI0.59780263
49CAMKK20.58688357
50JAK10.57572181
51MAP3K50.55916180
52MAP2K60.55238699
53STK160.52825752
54TXK0.52716361
55PIM20.52656157
56IRAK30.51729560
57PRKCE0.49571738
58PRKG20.48415745
59PAK40.48388583
60SYK0.48327168
61VRK20.47929144
62PDK10.47676539
63PTK60.47061138
64IKBKB0.45329501
65JAK30.44559910
66TNIK0.42657328
67AKT20.42244826
68PRKCQ0.42212750
69DYRK20.41081449
70BUB10.38709806
71CAMK2D0.37373856
72RPS6KA50.34970071
73MAP2K40.32757894
74FER0.31570842
75CAMK2G0.30848302
76PRKD10.30433297
77PRKACG0.29957836
78LCK0.28858019
79SCYL20.26343913
80CSNK1A10.25943971
81INSRR0.25576236
82WNK40.25549419
83TBK10.25292667
84PASK0.25199813
85TLK10.25036530
86LYN0.24991908
87NTRK30.24730341
88PRKCA0.24001107
89IGF1R0.23981934
90MAPK150.23954431
91GRK50.21882872
92ZAK0.21684934
93CSK0.20903160
94PDPK10.20772877
95IKBKE0.19359237
96DYRK30.18495495
97CAMK2B0.17465512
98PRKACA0.16963206
99LRRK20.16709061
100PRKAA20.16577128

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046103.77587816
2Caffeine metabolism_Homo sapiens_hsa002323.75945767
3Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.47638200
4Primary bile acid biosynthesis_Homo sapiens_hsa001203.10116166
5Retinol metabolism_Homo sapiens_hsa008302.90274695
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.90080075
7Chemical carcinogenesis_Homo sapiens_hsa052042.85923676
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.78520453
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.73094108
10Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.70356287
11Linoleic acid metabolism_Homo sapiens_hsa005912.59244034
12Arginine biosynthesis_Homo sapiens_hsa002202.39660401
13Fatty acid degradation_Homo sapiens_hsa000712.27695496
14Drug metabolism - other enzymes_Homo sapiens_hsa009832.16093093
15Tyrosine metabolism_Homo sapiens_hsa003502.10228725
16Vitamin digestion and absorption_Homo sapiens_hsa049772.07575328
17Pentose and glucuronate interconversions_Homo sapiens_hsa000402.05176290
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.02639519
19* Mineral absorption_Homo sapiens_hsa049781.94031556
20Steroid hormone biosynthesis_Homo sapiens_hsa001401.90794309
21Tryptophan metabolism_Homo sapiens_hsa003801.87242971
22Phenylalanine metabolism_Homo sapiens_hsa003601.79776677
23Histidine metabolism_Homo sapiens_hsa003401.79094999
24Fat digestion and absorption_Homo sapiens_hsa049751.66529186
25PPAR signaling pathway_Homo sapiens_hsa033201.65613318
26Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.53203666
27Butanoate metabolism_Homo sapiens_hsa006501.52656624
28Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.49845272
29Arachidonic acid metabolism_Homo sapiens_hsa005901.49686650
30Galactose metabolism_Homo sapiens_hsa000521.38934634
31Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.36899888
32One carbon pool by folate_Homo sapiens_hsa006701.29875170
33Bile secretion_Homo sapiens_hsa049761.28273372
34Staphylococcus aureus infection_Homo sapiens_hsa051501.24770456
35alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.22299097
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.19190300
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.14764927
38Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.09585582
39Oxidative phosphorylation_Homo sapiens_hsa001901.06302515
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.05478912
41Prion diseases_Homo sapiens_hsa050201.05400774
42Peroxisome_Homo sapiens_hsa041461.05350867
43Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.03040736
44Maturity onset diabetes of the young_Homo sapiens_hsa049501.00354976
45Proteasome_Homo sapiens_hsa030500.93469347
46Starch and sucrose metabolism_Homo sapiens_hsa005000.91407719
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90767341
48beta-Alanine metabolism_Homo sapiens_hsa004100.87612999
49Arginine and proline metabolism_Homo sapiens_hsa003300.86462334
50Vitamin B6 metabolism_Homo sapiens_hsa007500.83404987
51Carbon metabolism_Homo sapiens_hsa012000.82464402
52Biosynthesis of amino acids_Homo sapiens_hsa012300.81157528
53Pyruvate metabolism_Homo sapiens_hsa006200.80368670
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.79151638
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.78004382
56Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76847951
57Sulfur metabolism_Homo sapiens_hsa009200.76480358
58Selenocompound metabolism_Homo sapiens_hsa004500.76376713
59Fructose and mannose metabolism_Homo sapiens_hsa000510.72250888
60Glutathione metabolism_Homo sapiens_hsa004800.71084685
61Parkinsons disease_Homo sapiens_hsa050120.70727272
62Folate biosynthesis_Homo sapiens_hsa007900.70544405
63Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.69604808
64Metabolic pathways_Homo sapiens_hsa011000.69584007
65Pertussis_Homo sapiens_hsa051330.64867533
66Pentose phosphate pathway_Homo sapiens_hsa000300.64847764
67Propanoate metabolism_Homo sapiens_hsa006400.63645604
68Fatty acid elongation_Homo sapiens_hsa000620.61024876
69Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.60354696
70Graft-versus-host disease_Homo sapiens_hsa053320.60126957
71Phototransduction_Homo sapiens_hsa047440.58509369
72Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.56546549
73ABC transporters_Homo sapiens_hsa020100.54702208
74Other glycan degradation_Homo sapiens_hsa005110.53961648
75Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.53377969
76Carbohydrate digestion and absorption_Homo sapiens_hsa049730.51873238
77African trypanosomiasis_Homo sapiens_hsa051430.50086081
78Ether lipid metabolism_Homo sapiens_hsa005650.39458763
79Alzheimers disease_Homo sapiens_hsa050100.37405551
80Glycerolipid metabolism_Homo sapiens_hsa005610.36477922
81Fatty acid metabolism_Homo sapiens_hsa012120.34831561
82Sphingolipid metabolism_Homo sapiens_hsa006000.32700079
83Glycerophospholipid metabolism_Homo sapiens_hsa005640.27296181
84Huntingtons disease_Homo sapiens_hsa050160.24691885
85Pyrimidine metabolism_Homo sapiens_hsa002400.22398190
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.21304036
87Primary immunodeficiency_Homo sapiens_hsa053400.21162302
88Nitrogen metabolism_Homo sapiens_hsa009100.20484026
89Collecting duct acid secretion_Homo sapiens_hsa049660.19979795
90Antigen processing and presentation_Homo sapiens_hsa046120.14418702
91Circadian rhythm_Homo sapiens_hsa047100.13298590
92NF-kappa B signaling pathway_Homo sapiens_hsa040640.13234953
93Sulfur relay system_Homo sapiens_hsa041220.11501780
94Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.10833907
95Insulin resistance_Homo sapiens_hsa049310.09826373
96N-Glycan biosynthesis_Homo sapiens_hsa005100.09672074
97Rheumatoid arthritis_Homo sapiens_hsa053230.08328360
98Type I diabetes mellitus_Homo sapiens_hsa049400.06913283
99Renin-angiotensin system_Homo sapiens_hsa046140.04819745
100Glucagon signaling pathway_Homo sapiens_hsa049220.03919104

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