GJB1

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 gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.79037679
2L-phenylalanine catabolic process (GO:0006559)7.79037679
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.41557453
4L-phenylalanine metabolic process (GO:0006558)7.41557453
5aromatic amino acid family catabolic process (GO:0009074)6.79760530
6epoxygenase P450 pathway (GO:0019373)6.47286788
7exogenous drug catabolic process (GO:0042738)6.31809038
8triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.19065801
9tryptophan catabolic process (GO:0006569)5.95163717
10indole-containing compound catabolic process (GO:0042436)5.95163717
11indolalkylamine catabolic process (GO:0046218)5.95163717
12bile acid biosynthetic process (GO:0006699)5.90594070
13kynurenine metabolic process (GO:0070189)5.82772141
14glyoxylate metabolic process (GO:0046487)5.80632263
15tryptophan metabolic process (GO:0006568)5.59974482
16alpha-linolenic acid metabolic process (GO:0036109)5.53265032
17negative regulation of fibrinolysis (GO:0051918)5.49768097
18high-density lipoprotein particle remodeling (GO:0034375)5.49488575
19omega-hydroxylase P450 pathway (GO:0097267)5.47577428
20urea metabolic process (GO:0019627)5.40364016
21urea cycle (GO:0000050)5.40364016
22cysteine metabolic process (GO:0006534)5.32290001
23sulfur amino acid catabolic process (GO:0000098)5.31444865
24regulation of fibrinolysis (GO:0051917)5.31244268
25regulation of plasminogen activation (GO:0010755)5.29365359
26peptidyl-glutamic acid carboxylation (GO:0017187)5.27435855
27protein carboxylation (GO:0018214)5.27435855
28regulation of protein activation cascade (GO:2000257)5.16062581
29complement activation, alternative pathway (GO:0006957)5.16013278
30bile acid metabolic process (GO:0008206)5.04386424
31drug metabolic process (GO:0017144)5.00440457
32nitrogen cycle metabolic process (GO:0071941)4.99104254
33serine family amino acid catabolic process (GO:0009071)4.94295231
34aromatic amino acid family metabolic process (GO:0009072)4.92772755
35regulation of cholesterol esterification (GO:0010872)4.84299087
36regulation of complement activation (GO:0030449)4.81248127
37reverse cholesterol transport (GO:0043691)4.80162300
38regulation of triglyceride catabolic process (GO:0010896)4.79400343
39tyrosine metabolic process (GO:0006570)4.77613633
40fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.75319065
41protein-lipid complex remodeling (GO:0034368)4.68573955
42macromolecular complex remodeling (GO:0034367)4.68573955
43plasma lipoprotein particle remodeling (GO:0034369)4.68573955
44negative regulation of blood coagulation (GO:0030195)4.66487441
45negative regulation of hemostasis (GO:1900047)4.66487441
46intestinal cholesterol absorption (GO:0030299)4.64676132
47homocysteine metabolic process (GO:0050667)4.60510154
48phenylpropanoid metabolic process (GO:0009698)4.60109828
49alpha-amino acid catabolic process (GO:1901606)4.59108352
50coenzyme catabolic process (GO:0009109)4.55967710
51triglyceride homeostasis (GO:0070328)4.54148985
52acylglycerol homeostasis (GO:0055090)4.54148985
53ethanol metabolic process (GO:0006067)4.53127978
54phospholipid efflux (GO:0033700)4.45295487
55negative regulation of sterol transport (GO:0032372)4.44817292
56negative regulation of cholesterol transport (GO:0032375)4.44817292
57cellular ketone body metabolic process (GO:0046950)4.40634164
58amino-acid betaine metabolic process (GO:0006577)4.39956445
59lysine catabolic process (GO:0006554)4.39346278
60lysine metabolic process (GO:0006553)4.39346278
61plasma lipoprotein particle clearance (GO:0034381)4.38466691
62oxidative demethylation (GO:0070989)4.32187221
63negative regulation of coagulation (GO:0050819)4.29285137
64glycine metabolic process (GO:0006544)4.27598385
65bile acid and bile salt transport (GO:0015721)4.26439280
66indolalkylamine metabolic process (GO:0006586)4.25281908
67cellular amino acid catabolic process (GO:0009063)4.25238307
68cholesterol efflux (GO:0033344)4.23920225
69glutamate metabolic process (GO:0006536)4.22475140
70acute-phase response (GO:0006953)4.19323860
71cellular biogenic amine catabolic process (GO:0042402)4.18977174
72amine catabolic process (GO:0009310)4.18977174
73imidazole-containing compound metabolic process (GO:0052803)4.16526724
74serine family amino acid metabolic process (GO:0009069)4.16018002
75negative regulation of wound healing (GO:0061045)4.15927851
76serine family amino acid biosynthetic process (GO:0009070)4.15452708
77ethanol oxidation (GO:0006069)4.11811501
78cellular glucuronidation (GO:0052695)4.07592182
79cellular modified amino acid catabolic process (GO:0042219)4.06639741
80aldehyde catabolic process (GO:0046185)4.01274322
81protein-lipid complex subunit organization (GO:0071825)3.98843630
82negative regulation of protein activation cascade (GO:2000258)3.98337985
83benzene-containing compound metabolic process (GO:0042537)3.98053962
84cofactor catabolic process (GO:0051187)3.94508306
85fibrinolysis (GO:0042730)3.93478139
86arginine metabolic process (GO:0006525)3.93428321
87low-density lipoprotein particle remodeling (GO:0034374)3.91067312
88positive regulation of lipoprotein lipase activity (GO:0051006)3.90851081
89positive regulation of triglyceride lipase activity (GO:0061365)3.90851081
90plasma lipoprotein particle assembly (GO:0034377)3.90825626
91positive regulation of blood coagulation (GO:0030194)3.90351199
92positive regulation of hemostasis (GO:1900048)3.90351199
93regulation of humoral immune response (GO:0002920)3.89907987
94dicarboxylic acid biosynthetic process (GO:0043650)3.85258167
95ketone body metabolic process (GO:1902224)3.82161710
96heme transport (GO:0015886)3.78495179
97drug catabolic process (GO:0042737)3.77500078
98cholesterol homeostasis (GO:0042632)3.76104690
99proline metabolic process (GO:0006560)3.75621388
100blood coagulation, intrinsic pathway (GO:0007597)3.75233288
101acetyl-CoA metabolic process (GO:0006084)3.72812906
102alkaloid metabolic process (GO:0009820)3.71896103
103organic acid catabolic process (GO:0016054)3.71520410
104carboxylic acid catabolic process (GO:0046395)3.71520410
105fat-soluble vitamin biosynthetic process (GO:0042362)3.71063375
106short-chain fatty acid metabolic process (GO:0046459)3.71060355
107negative regulation of lipase activity (GO:0060192)3.70847033
108sterol homeostasis (GO:0055092)3.69687052
109positive regulation of fatty acid biosynthetic process (GO:0045723)3.68689131
110very-low-density lipoprotein particle assembly (GO:0034379)3.68628584
111regulation of bile acid biosynthetic process (GO:0070857)3.65634723
112flavonoid metabolic process (GO:0009812)3.65600694
113positive regulation of coagulation (GO:0050820)3.65422172
114complement activation, classical pathway (GO:0006958)3.64791677
115uronic acid metabolic process (GO:0006063)3.62967369
116glucuronate metabolic process (GO:0019585)3.62967369
117protein activation cascade (GO:0072376)3.60634062
118positive regulation of lipid catabolic process (GO:0050996)3.60483635
119complement activation (GO:0006956)3.60409458
120phospholipid homeostasis (GO:0055091)3.58610204
121aspartate family amino acid catabolic process (GO:0009068)3.58284071
122protein-lipid complex assembly (GO:0065005)3.56885835
123regulation of cholesterol homeostasis (GO:2000188)3.56325321
124regulation of lipoprotein particle clearance (GO:0010984)3.55902601
125cytolysis (GO:0019835)3.55129695
126plasma lipoprotein particle organization (GO:0071827)3.54865996
127regulation of apoptotic cell clearance (GO:2000425)3.51989610
128hormone catabolic process (GO:0042447)3.51940554
129intestinal absorption (GO:0050892)3.46402444
130lipoprotein metabolic process (GO:0042157)3.36634876
131negative regulation of complement activation (GO:0045916)3.32875010
132negative regulation of lipid transport (GO:0032369)3.28150663
133acute inflammatory response (GO:0002526)3.26716937

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.12449427
2PPARA_22158963_ChIP-Seq_LIVER_Mouse6.95437794
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.80030956
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.34022655
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.21240687
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.92225853
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.62489901
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.88218174
9* NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.86104501
10* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.5367090
11TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.95956943
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.86925597
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.81770514
14FOXA2_19822575_ChIP-Seq_HepG2_Human1.67116382
15HTT_18923047_ChIP-ChIP_STHdh_Human1.65740330
16TRIM28_21343339_ChIP-Seq_HEK293_Human1.42217406
17CLOCK_20551151_ChIP-Seq_293T_Human1.40771240
18* HNF4A_19822575_ChIP-Seq_HepG2_Human1.36037770
19TP63_17297297_ChIP-ChIP_HaCaT_Human1.33995517
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24292166
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.21106395
22GATA1_22025678_ChIP-Seq_K562_Human1.20616876
23RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15631323
24TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12148506
25PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.10243563
26SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.09412735
27DNAJC2_21179169_ChIP-ChIP_NT2_Human1.09114207
28SOX2_27498859_Chip-Seq_STOMACH_Mouse1.08734092
29ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06664844
30PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.06492740
31CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.06097771
32TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.02524571
33RACK7_27058665_Chip-Seq_MCF-7_Human0.97960901
34SRY_22984422_ChIP-ChIP_TESTIS_Rat0.93812929
35CTCF_27219007_Chip-Seq_Bcells_Human0.93752748
36EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93048049
37STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.91364502
38SMC4_20622854_ChIP-Seq_HELA_Human0.90792540
39ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.88401290
40GATA4_25053715_ChIP-Seq_YYC3_Human0.87859050
41ESR2_21235772_ChIP-Seq_MCF-7_Human0.87693867
42AUTS2_25519132_ChIP-Seq_293T-REX_Human0.84275651
43CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83804816
44ESR1_15608294_ChIP-ChIP_MCF-7_Human0.82235000
45FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.82129432
46JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.79445812
47SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.78753839
48NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.78337232
49NRF2_20460467_ChIP-Seq_MEFs_Mouse0.78337232
50BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.78082654
51SOX2_21211035_ChIP-Seq_LN229_Human0.78061319
52TET1_21451524_ChIP-Seq_MESCs_Mouse0.76444072
53ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.76117465
54AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.76029076
55IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.75899859
56TCF4_18268006_ChIP-ChIP_LS174T_Human0.74786961
57RARG_19884340_ChIP-ChIP_MEFs_Mouse0.74647165
58SA1_27219007_Chip-Seq_Bcells_Human0.74368444
59KAP1_22055183_ChIP-Seq_ESCs_Mouse0.74198863
60BCOR_27268052_Chip-Seq_Bcells_Human0.73547431
61DROSHA_22980978_ChIP-Seq_HELA_Human0.72346144
62SALL4_18804426_ChIP-ChIP_XEN_Mouse0.71879687
63SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.70361281
64CDX2_19796622_ChIP-Seq_MESCs_Mouse0.69665421
65POU5F1_16518401_ChIP-PET_MESCs_Mouse0.69195194
66RAD21_21589869_ChIP-Seq_MESCs_Mouse0.67068691
67Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.66737709
68RARA_24833708_ChIP-Seq_LIVER_Mouse0.66726614
69ZNF263_19887448_ChIP-Seq_K562_Human0.66288380
70PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.65898403
71CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.65606347
72BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.65161306
73E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.64371936
74P68_20966046_ChIP-Seq_HELA_Human0.64288773
75EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.64262813
76CTCF_20526341_ChIP-Seq_ESCs_Human0.64243893
77EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.64222018
78EGR1_19032775_ChIP-ChIP_M12_Human0.64212950
79FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.64153315
80NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.63960243
81CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.63891262
82GATA3_21867929_ChIP-Seq_CD8_Mouse0.62957782
83NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.62940772
84RARB_24833708_ChIP-Seq_LIVER_Mouse0.62254471
85FOXA1_25552417_ChIP-Seq_VCAP_Human0.62180258
86TAF15_26573619_Chip-Seq_HEK293_Human0.62104825
87NFIB_24661679_ChIP-Seq_LUNG_Mouse0.61819057
88ELF1_20517297_ChIP-Seq_JURKAT_Human0.61432254
89STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.61209945
90SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.59824690
91CEBPB_22108803_ChIP-Seq_LS180_Human0.59670304
92PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.59383228
93NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.58940996
94MYC_19915707_ChIP-ChIP_AK7_Human0.58512842
95CBP_21632823_ChIP-Seq_H3396_Human0.55473341
96ESR1_20079471_ChIP-ChIP_T-47D_Human0.53996179
97ESET_19884257_ChIP-Seq_ESCs_Mouse0.53973862
98IRF8_22096565_ChIP-ChIP_GC-B_Human0.53967693
99GATA1_19941826_ChIP-Seq_K562_Human0.53317565
100ERG_21242973_ChIP-ChIP_JURKAT_Human0.52797538
101P53_21459846_ChIP-Seq_SAOS-2_Human0.52621842
102* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.52179137
103AR_20517297_ChIP-Seq_VCAP_Human0.51938626
104LXR_22292898_ChIP-Seq_THP-1_Human0.51538707
105FOXO3_23340844_ChIP-Seq_DLD1_Human0.51453436
106PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.51094503
107NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.50615107
108CDX2_20551321_ChIP-Seq_CACO-2_Human0.48010675
109SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.47704032
110FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.47329439
111TAF2_19829295_ChIP-Seq_ESCs_Human0.47275747
112STAT1_17558387_ChIP-Seq_HELA_Human0.47198822
113ESR1_21235772_ChIP-Seq_MCF-7_Human0.46981863
114FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.45869236
115OCT4_20526341_ChIP-Seq_ESCs_Human0.45270038
116EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.44732015
117GATA2_19941826_ChIP-Seq_K562_Human0.43554531
118PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.43494584
119GATA1_19941827_ChIP-Seq_MEL_Mouse0.43208877
120PPAR_26484153_Chip-Seq_NCI-H1993_Human0.43206752
121NCOR_22424771_ChIP-Seq_293T_Human0.42666549
122GATA6_25053715_ChIP-Seq_YYC3_Human0.41904291
123SOX2_20726797_ChIP-Seq_SW620_Human0.41076804
124CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.40357822
125MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.40251720
126GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.39467929
127FOXH1_21741376_ChIP-Seq_EPCs_Human0.39292459
128P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.39021721
129ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.38906950
130SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38888695
131ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.38836821
132MYC_27129775_Chip-Seq_CORNEA_Mouse0.38696881
133GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.37809698

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.16102201
2MP0005360_urolithiasis7.46603081
3MP0005085_abnormal_gallbladder_physiolo6.34921491
4MP0005365_abnormal_bile_salt6.08726339
5MP0008875_abnormal_xenobiotic_pharmacok5.01483170
6MP0003806_abnormal_nucleotide_metabolis4.45718939
7MP0003252_abnormal_bile_duct3.81078799
8MP0010329_abnormal_lipoprotein_level3.50627043
9MP0009840_abnormal_foam_cell3.46090454
10MP0005083_abnormal_biliary_tract3.20216152
11MP0003195_calcinosis2.96998449
12MP0005332_abnormal_amino_acid2.80080177
13MP0001666_abnormal_nutrient_absorption2.76045343
14MP0003191_abnormal_cellular_cholesterol2.37606327
15MP0002118_abnormal_lipid_homeostasis2.15623387
16MP0004019_abnormal_vitamin_homeostasis2.08858695
17MP0000609_abnormal_liver_physiology2.08291836
18MP0003868_abnormal_feces_composition1.92586766
19MP0002138_abnormal_hepatobiliary_system1.82952890
20MP0005319_abnormal_enzyme/_coenzyme1.73929085
21MP0001764_abnormal_homeostasis1.62769091
22MP0005584_abnormal_enzyme/coenzyme_acti1.61810040
23MP0005451_abnormal_body_composition1.59229584
24MP0009697_abnormal_copulation1.47000210
25MP0003011_delayed_dark_adaptation1.44546302
26MP0003656_abnormal_erythrocyte_physiolo1.38503436
27MP0003186_abnormal_redox_activity1.32323169
28MP0000566_synostosis1.25560636
29MP0009643_abnormal_urine_homeostasis1.24950770
30MP0000604_amyloidosis1.23669503
31MP0003879_abnormal_hair_cell1.19323812
32MP0002089_abnormal_postnatal_growth/wei1.16764978
33MP0005647_abnormal_sex_gland1.14490563
34* MP0000598_abnormal_liver_morphology1.07421329
35MP0009763_increased_sensitivity_to0.98502458
36MP0003690_abnormal_glial_cell0.98435839
37MP0009764_decreased_sensitivity_to0.97138988
38MP0005636_abnormal_mineral_homeostasis0.95743898
39MP0005408_hypopigmentation0.95669650
40MP0002132_abnormal_respiratory_system0.95138512
41MP0003705_abnormal_hypodermis_morpholog0.93931120
42MP0003329_amyloid_beta_deposits0.92247471
43MP0002254_reproductive_system_inflammat0.91563931
44MP0010368_abnormal_lymphatic_system0.86496190
45MP0001915_intracranial_hemorrhage0.85821729
46MP0009642_abnormal_blood_homeostasis0.84571211
47MP0006036_abnormal_mitochondrial_physio0.83791181
48MP0008469_abnormal_protein_level0.83489951
49MP0009765_abnormal_xenobiotic_induced0.81757013
50MP0003172_abnormal_lysosome_physiology0.80411908
51MP0005376_homeostasis/metabolism_phenot0.78331802
52MP0005084_abnormal_gallbladder_morpholo0.77407674
53MP0003122_maternal_imprinting0.75670410
54MP0005220_abnormal_exocrine_pancreas0.75229484
55MP0002876_abnormal_thyroid_physiology0.74647130
56MP0003183_abnormal_peptide_metabolism0.72040977
57* MP0002078_abnormal_glucose_homeostasis0.71153851
58MP0001661_extended_life_span0.69766211
59MP0005409_darkened_coat_color0.68628352
60MP0005535_abnormal_body_temperature0.67711381
61MP0002971_abnormal_brown_adipose0.67150981
62MP0000639_abnormal_adrenal_gland0.67117477
63MP0005670_abnormal_white_adipose0.64796467
64MP0005334_abnormal_fat_pad0.63507746
65MP0005266_abnormal_metabolism0.61105547
66MP0004381_abnormal_hair_follicle0.59388642
67MP0002822_catalepsy0.58630886
68MP0004130_abnormal_muscle_cell0.57739410
69MP0003123_paternal_imprinting0.56553187
70MP0001756_abnormal_urination0.56140344
71MP0005448_abnormal_energy_balance0.55166740
72MP0002909_abnormal_adrenal_gland0.53387166
73MP0006035_abnormal_mitochondrial_morpho0.52360518
74MP0004264_abnormal_extraembryonic_tissu0.52192897
75MP0002249_abnormal_larynx_morphology0.51634882
76MP0003718_maternal_effect0.49459981
77MP0009053_abnormal_anal_canal0.49341380
78MP0010386_abnormal_urinary_bladder0.48590282
79MP0003638_abnormal_response/metabolism_0.48474021
80MP0003075_altered_response_to0.48166772
81MP0000579_abnormal_nail_morphology0.47576779
82MP0005395_other_phenotype0.47530687
83MP0008873_increased_physiological_sensi0.46698567
84MP0008874_decreased_physiological_sensi0.46336258
85MP0004043_abnormal_pH_regulation0.45825263
86MP0005464_abnormal_platelet_physiology0.45245598
87MP0005257_abnormal_intraocular_pressure0.45212551
88MP0005023_abnormal_wound_healing0.43730179
89MP0005187_abnormal_penis_morphology0.43545828
90MP0002136_abnormal_kidney_physiology0.42683110
91MP0005058_abnormal_lysosome_morphology0.42682755
92MP0004858_abnormal_nervous_system0.42607568
93* MP0000920_abnormal_myelination0.40761149
94MP0006082_CNS_inflammation0.40576407
95MP0004782_abnormal_surfactant_physiolog0.39834123
96MP0010234_abnormal_vibrissa_follicle0.39085271
97MP0008872_abnormal_physiological_respon0.39038264
98MP0002796_impaired_skin_barrier0.38795937
99MP0003953_abnormal_hormone_level0.38781959
100MP0005166_decreased_susceptibility_to0.38413300
101MP0004272_abnormal_basement_membrane0.36164228
102MP0003724_increased_susceptibility_to0.35985949
103MP0000230_abnormal_systemic_arterial0.33302259
104MP0005666_abnormal_adipose_tissue0.33234157
105MP0009672_abnormal_birth_weight0.32519620
106MP0002928_abnormal_bile_duct0.32234020
107MP0009384_cardiac_valve_regurgitation0.32041228
108MP0009780_abnormal_chondrocyte_physiolo0.31944163
109MP0002837_dystrophic_cardiac_calcinosis0.30886761
110MP0009115_abnormal_fat_cell0.30419931
111MP0004883_abnormal_blood_vessel0.30410305
112MP0001243_abnormal_dermal_layer0.29633771
113MP0005248_abnormal_Harderian_gland0.29257508
114MP0000249_abnormal_blood_vessel0.28728248
115MP0003436_decreased_susceptibility_to0.27728577
116MP0005164_abnormal_response_to0.27558619
117* MP0003631_nervous_system_phenotype0.27421371
118MP0002168_other_aberrant_phenotype0.26264139
119MP0002090_abnormal_vision0.26188643
120MP0003453_abnormal_keratinocyte_physiol0.26111089
121MP0005171_absent_coat_pigmentation0.26091694
122MP0002295_abnormal_pulmonary_circulatio0.25608786
123MP0003633_abnormal_nervous_system0.24971742
124MP0005167_abnormal_blood-brain_barrier0.24927551
125MP0001765_abnormal_ion_homeostasis0.24643463
126* MP0003632_abnormal_nervous_system0.24350858
127MP0002970_abnormal_white_adipose0.24319826

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.60292199
2Intrahepatic cholestasis (HP:0001406)7.39114124
3Deep venous thrombosis (HP:0002625)7.30819341
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.46187562
5Prolonged partial thromboplastin time (HP:0003645)6.46026856
6Xanthomatosis (HP:0000991)6.24699210
7Hypobetalipoproteinemia (HP:0003563)6.21394004
8Hyperlipoproteinemia (HP:0010980)5.60776534
9Complement deficiency (HP:0004431)5.25525722
10Joint hemorrhage (HP:0005261)4.66932080
11Hypolipoproteinemia (HP:0010981)4.66083939
12Hyperammonemia (HP:0001987)4.55840932
13Epidermoid cyst (HP:0200040)4.40158502
14Hyperglycinemia (HP:0002154)4.36762603
15Abnormality of the common coagulation pathway (HP:0010990)4.35010915
16Abnormality of methionine metabolism (HP:0010901)4.34624971
17Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.29920146
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.26403242
19Fat malabsorption (HP:0002630)4.21353396
20Ketosis (HP:0001946)4.19041306
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.17337088
22Hypoalphalipoproteinemia (HP:0003233)4.08622045
23Abnormality of glutamine family amino acid metabolism (HP:0010902)4.00955685
24Abnormality of glycine metabolism (HP:0010895)3.98635993
25Abnormality of serine family amino acid metabolism (HP:0010894)3.98635993
26Hyperglycinuria (HP:0003108)3.81995030
27Abnormality of complement system (HP:0005339)3.77824768
28Conjugated hyperbilirubinemia (HP:0002908)3.71323546
29Abnormality of the intrinsic pathway (HP:0010989)3.67874810
30Hypoglycemic coma (HP:0001325)3.67744711
31Abnormality of pyrimidine metabolism (HP:0004353)3.52707809
32Hypercholesterolemia (HP:0003124)3.47854235
33Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.39114347
34Nephritis (HP:0000123)3.36933417
35Abnormality of fatty-acid metabolism (HP:0004359)3.32394152
36Hyperbilirubinemia (HP:0002904)3.28191958
37Steatorrhea (HP:0002570)3.27296815
38Delayed CNS myelination (HP:0002188)3.09599533
39Abnormality of serum amino acid levels (HP:0003112)3.02768139
40Spontaneous abortion (HP:0005268)2.96448331
41Abnormality of nucleobase metabolism (HP:0010932)2.90734582
42Ketoacidosis (HP:0001993)2.90579768
43Purpura (HP:0000979)2.89350812
44Hypochromic microcytic anemia (HP:0004840)2.86760003
45Hepatocellular carcinoma (HP:0001402)2.85949129
46Myocardial infarction (HP:0001658)2.83917912
47Metabolic acidosis (HP:0001942)2.74917196
48Vascular calcification (HP:0004934)2.71479343
49Systemic lupus erythematosus (HP:0002725)2.68051519
50Skin nodule (HP:0200036)2.65908051
51Lethargy (HP:0001254)2.63554235
52Abnormality of dicarboxylic acid metabolism (HP:0010995)2.63340926
53Dicarboxylic aciduria (HP:0003215)2.63340926
54Abnormality of purine metabolism (HP:0004352)2.59747969
55Acanthocytosis (HP:0001927)2.58093788
56Osteomalacia (HP:0002749)2.54127880
57Abnormal gallbladder morphology (HP:0012437)2.53363812
58Amyloidosis (HP:0011034)2.49845774
59Cerebral edema (HP:0002181)2.47461373
60Gout (HP:0001997)2.43437839
61Cholelithiasis (HP:0001081)2.42193461
62Cholecystitis (HP:0001082)2.41909412
63Abnormal gallbladder physiology (HP:0012438)2.41909412
64Irritability (HP:0000737)2.40761632
65Cardiovascular calcification (HP:0011915)2.39411572
66Hypoglycemic seizures (HP:0002173)2.37495773
67Glomerulonephritis (HP:0000099)2.35045269
68Spastic diplegia (HP:0001264)2.32266694
69Mitral stenosis (HP:0001718)2.29824257
70Malnutrition (HP:0004395)2.27562210
71Pulmonary embolism (HP:0002204)2.22532402
72Neonatal onset (HP:0003623)2.21888151
73Opisthotonus (HP:0002179)2.18872091
74Brushfield spots (HP:0001088)2.18393767
75Recurrent gram-negative bacterial infections (HP:0005420)2.15893710
76Gingival bleeding (HP:0000225)2.15860845
77Reduced antithrombin III activity (HP:0001976)2.13808402
78Pancreatitis (HP:0001733)2.13632886
79Hypophosphatemic rickets (HP:0004912)2.12122285
80Vomiting (HP:0002013)2.10522734
81Enlarged kidneys (HP:0000105)2.10054080
82Sensorimotor neuropathy (HP:0007141)2.08645560
83Rickets (HP:0002748)2.06958077
84Abnormality of the gallbladder (HP:0005264)2.05375746
85Menorrhagia (HP:0000132)2.04753746
86Bifid scrotum (HP:0000048)2.04602283
87Esophageal varix (HP:0002040)2.03826166
88Abnormal tarsal ossification (HP:0008369)2.01720985
89Arthropathy (HP:0003040)1.99532615
90Generalized aminoaciduria (HP:0002909)1.98394927
91Abnormality of carpal bone ossification (HP:0006257)1.98392292
92Abnormality of urine glucose concentration (HP:0011016)1.97802871
93Glycosuria (HP:0003076)1.97802871
94Late onset (HP:0003584)1.96623979
95Hyperphosphaturia (HP:0003109)1.95772674
96Thrombophlebitis (HP:0004418)1.95305738
97Hyperinsulinemic hypoglycemia (HP:0000825)1.95137141
98Hemorrhage of the eye (HP:0011885)1.94987517
99Alkalosis (HP:0001948)1.93357178
100Poikilocytosis (HP:0004447)1.91786826
101Abnormal enzyme/coenzyme activity (HP:0012379)1.88133490
102Abnormality of iron homeostasis (HP:0011031)1.87911537
103Abnormality of vitamin metabolism (HP:0100508)1.85769153
104Abnormality of transition element cation homeostasis (HP:0011030)1.85537434
105Elevated alkaline phosphatase (HP:0003155)1.82247142
106Spastic paraparesis (HP:0002313)1.80268098
107Flat acetabular roof (HP:0003180)1.80046657
108Abnormality of alkaline phosphatase activity (HP:0004379)1.78733440
109Hydroxyprolinuria (HP:0003080)1.78172920
110Abnormality of proline metabolism (HP:0010907)1.78172920
111Retinal atrophy (HP:0001105)1.77310606
112Elevated hepatic transaminases (HP:0002910)1.77283329
113Facial shape deformation (HP:0011334)1.74738275
114Potter facies (HP:0002009)1.74738275
115Abnormal urine phosphate concentration (HP:0012599)1.74208289
116Hypophosphatemia (HP:0002148)1.72885964
117Abnormal cartilage morphology (HP:0002763)1.72626745
118Blue irides (HP:0000635)1.71802042
119Acute hepatic failure (HP:0006554)1.71296942
120Renal cortical cysts (HP:0000803)1.70789462
121Status epilepticus (HP:0002133)1.70430475
122Proximal tubulopathy (HP:0000114)1.64617105
123Joint swelling (HP:0001386)1.58941374
124Widely patent fontanelles and sutures (HP:0004492)1.58744349
125Urinary glycosaminoglycan excretion (HP:0003541)1.57342378
126Mucopolysacchariduria (HP:0008155)1.57342378

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.27227452
2SIK14.34941157
3FGFR44.34224731
4ERN14.05061471
5ERBB43.12337334
6TAOK32.92496345
7LMTK22.89310820
8INSRR2.78303200
9FGFR32.61116367
10EPHA22.24516201
11MST1R2.09933806
12MAP2K42.09094599
13FGFR21.95008497
14EPHB11.92081860
15MAP3K21.77392302
16PIK3CG1.75990901
17MAPK111.72655438
18NTRK31.67276610
19TAOK11.67091554
20PDK21.60335513
21MET1.57093175
22DAPK21.49459338
23PKN11.47115477
24PKN21.44447256
25ABL21.41004670
26TYK21.38186354
27PTK61.34100700
28LATS11.29732784
29FLT31.29047663
30PRPF4B1.24356175
31PBK1.23125942
32STK391.21048449
33PINK11.20027211
34TRIB31.18764167
35MAPK151.17245891
36MAP3K71.16203834
37CDK121.16003423
38DDR21.15112239
39CAMK2G1.13002625
40PRKG21.12782224
41KDR1.12006381
42JAK21.08215953
43TYRO31.08147266
44ERBB21.05752732
45PRKAA21.04897064
46PDGFRA1.01419876
47FRK1.00657753
48PRKCZ0.99893023
49NEK90.96808576
50MAPK40.96533491
51ACVR1B0.92440953
52GRK60.91586030
53TBK10.91383255
54CSNK1G10.90275937
55SGK2230.90046973
56SGK4940.90046973
57OXSR10.89687114
58GSK3A0.87207060
59MAPK120.85246640
60CSNK1G30.82288342
61AKT30.81164445
62TNK20.78740326
63MARK20.78267579
64FGFR10.78168056
65FER0.77235837
66JAK10.76743470
67PDPK10.75307353
68PRKCQ0.73231813
69SGK10.73144433
70MAP3K140.71966983
71CSNK1A1L0.71405499
72TIE10.70890076
73EPHA30.68199015
74CSNK1G20.68005163
75MAP2K20.67819168
76TESK20.67336089
77DYRK1B0.66315443
78MAP2K30.65706726
79CSK0.65188867
80MAP3K110.65180781
81* PRKACG0.64671587
82ICK0.62356811
83SMG10.62241285
84MAPK70.61707311
85PIM20.61506400
86EPHA40.60363257
87GRK10.60289684
88CAMK2D0.58764971
89PRKD30.56970067
90PRKD20.55695935
91ARAF0.55540975
92MAP2K60.54690686
93EEF2K0.54468869
94PRKAA10.54413099
95CAMK1D0.54010142
96PTK20.53867115
97STK38L0.53666763
98CSF1R0.52879508
99CDC42BPA0.51505716
100MAPKAPK30.51454133
101MAP3K30.48558943
102SRC0.48113781
103CAMKK10.46962009
104CDK60.46702316
105CAMK2B0.45416065
106TAOK20.45272471
107ILK0.44713030
108UHMK10.44364367
109RPS6KA30.43308369
110IRAK20.43242096
111PDK10.42428341
112RET0.42292017
113MAP3K100.42214918
114PAK30.41950291
115PRKD10.41179118
116SGK30.40841461
117WNK40.39916732
118MAP2K10.39153821
119MAP3K130.39127810
120IKBKE0.38404259
121* PRKACA0.38199743
122IGF1R0.37776413
123STK380.37608201
124SGK20.37524761
125CSNK1E0.37159539
126MAP3K10.37129692
127IRAK30.36715630
128PIK3CA0.36510408
129PRKCG0.35260365
130KSR20.34290501
131NTRK10.33680697
132PRKCI0.33043450
133TGFBR20.32796450
134EGFR0.31974636
135PRKACB0.31614440
136CAMK1G0.30843659
137WNK10.30098671
138CSNK1D0.28952048
139IRAK10.28738938
140DAPK30.28604188
141MAPK100.28252231
142RIPK10.27771603
143MTOR0.27409346
144* PRKCA0.27314917

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.40917261
2Nitrogen metabolism_Homo sapiens_hsa009103.70559830
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.21113233
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.16317158
5Arginine biosynthesis_Homo sapiens_hsa002202.98444214
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.83063085
7Complement and coagulation cascades_Homo sapiens_hsa046102.66073540
8Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.65165068
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.61544914
10Tryptophan metabolism_Homo sapiens_hsa003802.61064669
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.41263664
12Fatty acid degradation_Homo sapiens_hsa000712.40224240
13Butanoate metabolism_Homo sapiens_hsa006502.19543534
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.15264093
15Pentose and glucuronate interconversions_Homo sapiens_hsa000402.11372556
16Peroxisome_Homo sapiens_hsa041462.06187217
17Histidine metabolism_Homo sapiens_hsa003402.02919130
18Propanoate metabolism_Homo sapiens_hsa006401.94217276
19Chemical carcinogenesis_Homo sapiens_hsa052041.93645227
20Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.92541312
21Steroid hormone biosynthesis_Homo sapiens_hsa001401.89056931
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.83708674
23Fatty acid metabolism_Homo sapiens_hsa012121.81231600
24PPAR signaling pathway_Homo sapiens_hsa033201.79624730
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.75108316
26beta-Alanine metabolism_Homo sapiens_hsa004101.68217698
27Fatty acid elongation_Homo sapiens_hsa000621.67476696
28Retinol metabolism_Homo sapiens_hsa008301.66975473
29Staphylococcus aureus infection_Homo sapiens_hsa051501.65913965
30Caffeine metabolism_Homo sapiens_hsa002321.62311625
31Drug metabolism - other enzymes_Homo sapiens_hsa009831.62236928
32Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.59445652
33Steroid biosynthesis_Homo sapiens_hsa001001.56834685
34Sulfur metabolism_Homo sapiens_hsa009201.54682897
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.50468527
36Selenocompound metabolism_Homo sapiens_hsa004501.48736039
37Phenylalanine metabolism_Homo sapiens_hsa003601.47991771
38Bile secretion_Homo sapiens_hsa049761.46504706
39Tyrosine metabolism_Homo sapiens_hsa003501.43503658
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.42998528
41Pyruvate metabolism_Homo sapiens_hsa006201.37509158
42Folate biosynthesis_Homo sapiens_hsa007901.33441067
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.28282680
44Fat digestion and absorption_Homo sapiens_hsa049751.24790043
45Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.20124855
46Starch and sucrose metabolism_Homo sapiens_hsa005001.17976979
47ABC transporters_Homo sapiens_hsa020101.16776816
48Vitamin B6 metabolism_Homo sapiens_hsa007501.16214765
49Biosynthesis of amino acids_Homo sapiens_hsa012301.14967923
50Carbon metabolism_Homo sapiens_hsa012001.06422704
51Arginine and proline metabolism_Homo sapiens_hsa003301.05736336
52Cyanoamino acid metabolism_Homo sapiens_hsa004601.02662691
53Maturity onset diabetes of the young_Homo sapiens_hsa049500.99667213
54Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.97650750
55Sulfur relay system_Homo sapiens_hsa041220.96074407
56Vitamin digestion and absorption_Homo sapiens_hsa049770.94815559
57Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.83233527
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.78066198
59Glutathione metabolism_Homo sapiens_hsa004800.74033901
60Lysine degradation_Homo sapiens_hsa003100.72832070
61Glycerolipid metabolism_Homo sapiens_hsa005610.70214979
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66344698
63Other glycan degradation_Homo sapiens_hsa005110.63924161
64One carbon pool by folate_Homo sapiens_hsa006700.63554689
65Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.62588956
66Fatty acid biosynthesis_Homo sapiens_hsa000610.54096173
67Pentose phosphate pathway_Homo sapiens_hsa000300.52623537
68Metabolic pathways_Homo sapiens_hsa011000.49204595
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.42038776
70Linoleic acid metabolism_Homo sapiens_hsa005910.39510359
71Prion diseases_Homo sapiens_hsa050200.38438418
72Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.34195956
73Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.30227240
74Sphingolipid metabolism_Homo sapiens_hsa006000.27091779
75Pertussis_Homo sapiens_hsa051330.26822694
76Glycerophospholipid metabolism_Homo sapiens_hsa005640.22760944
77Fructose and mannose metabolism_Homo sapiens_hsa000510.17699935
78Adipocytokine signaling pathway_Homo sapiens_hsa049200.15713055
79Galactose metabolism_Homo sapiens_hsa000520.15510610
80Insulin resistance_Homo sapiens_hsa049310.14696321
81N-Glycan biosynthesis_Homo sapiens_hsa005100.04724067
82Ether lipid metabolism_Homo sapiens_hsa005650.03177424
83Pancreatic secretion_Homo sapiens_hsa049720.03022837
84Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.01430131
85Glucagon signaling pathway_Homo sapiens_hsa049220.00248864
86Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2357600
87Protein digestion and absorption_Homo sapiens_hsa04974-0.2285495
88Lysosome_Homo sapiens_hsa04142-0.2101372
89Mineral absorption_Homo sapiens_hsa04978-0.1960172
90Hepatitis C_Homo sapiens_hsa05160-0.1870306
91Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1825454
92Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1764810
93Insulin signaling pathway_Homo sapiens_hsa04910-0.1755065
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1730679
95Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1666115
96Renin-angiotensin system_Homo sapiens_hsa04614-0.1633986
97Type II diabetes mellitus_Homo sapiens_hsa04930-0.1539181
98Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1506883
99African trypanosomiasis_Homo sapiens_hsa05143-0.1443883
100Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563-0.1272533
101Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1174651
102Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1159866
103Regulation of autophagy_Homo sapiens_hsa04140-0.1150413
104Serotonergic synapse_Homo sapiens_hsa04726-0.1014526
105Amoebiasis_Homo sapiens_hsa05146-0.1012146
106Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0607169
107Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0313629
108AMPK signaling pathway_Homo sapiens_hsa04152-0.0277595

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