PAH

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: PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.43730066
2* L-phenylalanine catabolic process (GO:0006559)7.43730066
3epoxygenase P450 pathway (GO:0019373)7.28319930
4* erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.09980458
5* L-phenylalanine metabolic process (GO:0006558)7.09980458
6omega-hydroxylase P450 pathway (GO:0097267)6.90659945
7* aromatic amino acid family catabolic process (GO:0009074)6.82296367
8indole-containing compound catabolic process (GO:0042436)6.32355459
9indolalkylamine catabolic process (GO:0046218)6.32355459
10tryptophan catabolic process (GO:0006569)6.32355459
11glyoxylate metabolic process (GO:0046487)6.14324208
12kynurenine metabolic process (GO:0070189)6.05009191
13tryptophan metabolic process (GO:0006568)5.96184595
14bile acid biosynthetic process (GO:0006699)5.90441108
15triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.78438920
16cysteine metabolic process (GO:0006534)5.78109146
17regulation of plasminogen activation (GO:0010755)5.61203315
18urea metabolic process (GO:0019627)5.58481607
19urea cycle (GO:0000050)5.58481607
20alpha-linolenic acid metabolic process (GO:0036109)5.40241834
21sulfur amino acid catabolic process (GO:0000098)5.38469427
22serine family amino acid catabolic process (GO:0009071)5.34622560
23lysine metabolic process (GO:0006553)5.30895239
24lysine catabolic process (GO:0006554)5.30895239
25homocysteine metabolic process (GO:0050667)5.22016861
26negative regulation of fibrinolysis (GO:0051918)5.20338740
27nitrogen cycle metabolic process (GO:0071941)5.15428408
28fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.09045679
29protein activation cascade (GO:0072376)5.07888049
30high-density lipoprotein particle remodeling (GO:0034375)5.06821428
31protein carboxylation (GO:0018214)5.06354502
32peptidyl-glutamic acid carboxylation (GO:0017187)5.06354502
33complement activation, alternative pathway (GO:0006957)5.05888474
34oxidative demethylation (GO:0070989)5.04110823
35regulation of protein activation cascade (GO:2000257)5.00367456
36regulation of fibrinolysis (GO:0051917)5.00273531
37bile acid metabolic process (GO:0008206)4.99474733
38negative regulation of blood coagulation (GO:0030195)4.98102549
39negative regulation of hemostasis (GO:1900047)4.98102549
40very-low-density lipoprotein particle assembly (GO:0034379)4.92407345
41intestinal cholesterol absorption (GO:0030299)4.91483001
42* aromatic amino acid family metabolic process (GO:0009072)4.90119313
43negative regulation of protein activation cascade (GO:2000258)4.88734945
44ethanol metabolic process (GO:0006067)4.83742707
45amino-acid betaine metabolic process (GO:0006577)4.82171682
46tyrosine metabolic process (GO:0006570)4.79903711
47* alpha-amino acid catabolic process (GO:1901606)4.75594322
48regulation of humoral immune response (GO:0002920)4.72554134
49regulation of complement activation (GO:0030449)4.68531871
50complement activation (GO:0006956)4.60262669
51acute-phase response (GO:0006953)4.59964711
52negative regulation of coagulation (GO:0050819)4.56138282
53phenylpropanoid metabolic process (GO:0009698)4.54253511
54cellular ketone body metabolic process (GO:0046950)4.53234321
55positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.50256395
56regulation of triglyceride catabolic process (GO:0010896)4.49302490
57indolalkylamine metabolic process (GO:0006586)4.48493378
58serine family amino acid metabolic process (GO:0009069)4.47599073
59positive regulation of triglyceride lipase activity (GO:0061365)4.47148078
60positive regulation of lipoprotein lipase activity (GO:0051006)4.47148078
61negative regulation of wound healing (GO:0061045)4.46889974
62glycine metabolic process (GO:0006544)4.45413124
63positive regulation of blood coagulation (GO:0030194)4.45265281
64positive regulation of hemostasis (GO:1900048)4.45265281
65drug catabolic process (GO:0042737)4.45198822
66* cellular amino acid catabolic process (GO:0009063)4.42257992
67reverse cholesterol transport (GO:0043691)4.42102673
68glutamate metabolic process (GO:0006536)4.38949476
69regulation of cholesterol esterification (GO:0010872)4.38703164
70coenzyme catabolic process (GO:0009109)4.37632447
71negative regulation of sterol transport (GO:0032372)4.36239229
72negative regulation of cholesterol transport (GO:0032375)4.36239229
73cellular biogenic amine catabolic process (GO:0042402)4.36191781
74amine catabolic process (GO:0009310)4.36191781
75cellular modified amino acid catabolic process (GO:0042219)4.36098071
76plasma lipoprotein particle remodeling (GO:0034369)4.36049864
77protein-lipid complex remodeling (GO:0034368)4.36049864
78macromolecular complex remodeling (GO:0034367)4.36049864
79triglyceride homeostasis (GO:0070328)4.34886974
80acylglycerol homeostasis (GO:0055090)4.34886974
81cellular glucuronidation (GO:0052695)4.31214122
82serine family amino acid biosynthetic process (GO:0009070)4.24372756
83benzene-containing compound metabolic process (GO:0042537)4.22051714
84bile acid and bile salt transport (GO:0015721)4.21782605
85urate metabolic process (GO:0046415)4.21125769
86drug transmembrane transport (GO:0006855)4.18111630
87negative regulation of lipase activity (GO:0060192)4.17660242
88cytolysis (GO:0019835)4.11694483
89imidazole-containing compound metabolic process (GO:0052803)4.10964831
90phospholipid efflux (GO:0033700)4.10524445
91ethanol oxidation (GO:0006069)4.09977821
92dicarboxylic acid biosynthetic process (GO:0043650)4.08923300
93positive regulation of coagulation (GO:0050820)4.08356192
94regulation of apoptotic cell clearance (GO:2000425)4.07356657
95aldehyde catabolic process (GO:0046185)4.06929583
96short-chain fatty acid metabolic process (GO:0046459)4.04406028
97plasma lipoprotein particle organization (GO:0071827)4.03919225
98plasma lipoprotein particle clearance (GO:0034381)4.02751845
99S-adenosylmethionine metabolic process (GO:0046500)4.01498633
100arginine metabolic process (GO:0006525)3.97303685
101exogenous drug catabolic process (GO:0042738)3.95978946
102response to mercury ion (GO:0046689)3.94927700
103aspartate family amino acid catabolic process (GO:0009068)3.92599586
104ketone body metabolic process (GO:1902224)3.92237822
105acetyl-CoA metabolic process (GO:0006084)3.91934186
106negative regulation of complement activation (GO:0045916)3.90844749
107uronic acid metabolic process (GO:0006063)3.89530234
108glucuronate metabolic process (GO:0019585)3.89530234
109* carboxylic acid catabolic process (GO:0046395)3.88042112
110* organic acid catabolic process (GO:0016054)3.88042112
111disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.84091386
112killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.84091386
113protein-lipid complex assembly (GO:0065005)3.83812068
114cholesterol efflux (GO:0033344)3.82557950
115protein-lipid complex subunit organization (GO:0071825)3.79527443
116regulation of bile acid biosynthetic process (GO:0070857)3.76017355
117fibrinolysis (GO:0042730)3.74735780
1182-oxoglutarate metabolic process (GO:0006103)3.71092809
119opsonization (GO:0008228)3.70093801
120polyketide metabolic process (GO:0030638)3.68651273
121doxorubicin metabolic process (GO:0044598)3.68651273
122daunorubicin metabolic process (GO:0044597)3.68651273
123cofactor catabolic process (GO:0051187)3.68546606
124low-density lipoprotein particle remodeling (GO:0034374)3.67826165
125regulation of cholesterol homeostasis (GO:2000188)3.65654296
126alkaloid metabolic process (GO:0009820)3.65294380
127plasma lipoprotein particle assembly (GO:0034377)3.63727051
128hormone catabolic process (GO:0042447)3.62559660
129phospholipid homeostasis (GO:0055091)3.61674864
130cholesterol homeostasis (GO:0042632)3.59846782
131monocarboxylic acid catabolic process (GO:0072329)3.59585056
132drug metabolic process (GO:0017144)3.58694860
133flavonoid metabolic process (GO:0009812)3.57899987
134fatty acid oxidation (GO:0019395)3.56541406
135fatty acid beta-oxidation (GO:0006635)3.56264691
136sterol homeostasis (GO:0055092)3.55914576
137carnitine metabolic process (GO:0009437)3.54281006
138blood coagulation, intrinsic pathway (GO:0007597)3.52845685
139complement activation, classical pathway (GO:0006958)3.51073825
140acute inflammatory response (GO:0002526)3.50827615
141positive regulation of lipid catabolic process (GO:0050996)3.50746194
142sodium-independent organic anion transport (GO:0043252)3.49774801
143positive regulation of fatty acid biosynthetic process (GO:0045723)3.49542123

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.34910063
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.15657295
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.82944883
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.44897385
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.19815476
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.90959074
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.81041828
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.99760451
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.92342896
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.10395330
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.09713683
12* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.09279120
13* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.7619720
14CLOCK_20551151_ChIP-Seq_293T_Human1.64186869
15* FOXA2_19822575_ChIP-Seq_HepG2_Human1.62213451
16* HNF4A_19822575_ChIP-Seq_HepG2_Human1.45583797
17HTT_18923047_ChIP-ChIP_STHdh_Human1.45119514
18GATA1_22025678_ChIP-Seq_K562_Human1.38974557
19STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.26842502
20RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15904403
21TRIM28_21343339_ChIP-Seq_HEK293_Human1.15829750
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.14291834
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.07306163
24ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.04741109
25TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.04401833
26SOX2_27498859_Chip-Seq_STOMACH_Mouse1.02429160
27IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.01881084
28PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00915047
29TCF4_18268006_ChIP-ChIP_LS174T_Human0.99931190
30CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.99156998
31STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.96700913
32RARG_19884340_ChIP-ChIP_MEFs_Mouse0.95971241
33ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.94726707
34ESR1_15608294_ChIP-ChIP_MCF-7_Human0.91702661
35GATA4_25053715_ChIP-Seq_YYC3_Human0.91686253
36PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86447847
37IRF8_22096565_ChIP-ChIP_GC-B_Human0.85987438
38FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.84090967
39AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82529310
40ESR2_21235772_ChIP-Seq_MCF-7_Human0.80024340
41ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.77747102
42KAP1_22055183_ChIP-Seq_ESCs_Mouse0.76744340
43PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.76686767
44SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76002594
45NFE2_27457419_Chip-Seq_LIVER_Mouse0.74891366
46Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.74721415
47ESR1_21235772_ChIP-Seq_MCF-7_Human0.73961689
48* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.73856813
49CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.72078333
50SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.71537472
51* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.71511519
52SALL4_18804426_ChIP-ChIP_XEN_Mouse0.70970394
53RARA_24833708_ChIP-Seq_LIVER_Mouse0.70124889
54NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.69238111
55ZNF263_19887448_ChIP-Seq_K562_Human0.68409823
56RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.68233363
57SOX2_21211035_ChIP-Seq_LN229_Human0.65351098
58EGR1_19032775_ChIP-ChIP_M12_Human0.64407157
59BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.64244729
60* NRF2_20460467_ChIP-Seq_MEFs_Mouse0.63895235
61* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.63895235
62RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62634851
63NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.61748556
64RAC3_21632823_ChIP-Seq_H3396_Human0.61615300
65POU5F1_16518401_ChIP-PET_MESCs_Mouse0.60658573
66CEBPB_22108803_ChIP-Seq_LS180_Human0.60442879
67CDX2_20551321_ChIP-Seq_CACO-2_Human0.59010060
68RARB_24833708_ChIP-Seq_LIVER_Mouse0.58897950
69TP53_18474530_ChIP-ChIP_U2OS_Human0.58087755
70STAT3_1855785_ChIP-Seq_MESCs_Mouse0.57759847
71SMAD1_18555785_Chip-Seq_ESCs_Mouse0.57642605
72LXR_22292898_ChIP-Seq_THP-1_Human0.57132533
73AR_20517297_ChIP-Seq_VCAP_Human0.55785500
74HNFA_21074721_ChIP-Seq_CACO-2_Human0.55627797
75MYC_19915707_ChIP-ChIP_AK7_Human0.55190178
76PCGF2_27294783_Chip-Seq_NPCs_Mouse0.54978967
77* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.54778683
78ESRRB_18555785_Chip-Seq_ESCs_Mouse0.54108781
79FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.53599966
80SUZ12_27294783_Chip-Seq_NPCs_Mouse0.53586647
81ESET_19884257_ChIP-Seq_ESCs_Mouse0.52926658
82* FOXA1_25552417_ChIP-Seq_VCAP_Human0.52919029
83CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.52765085
84RUNX1_27457419_Chip-Seq_LIVER_Mouse0.52261093
85OCT4_18555785_Chip-Seq_ESCs_Mouse0.51263197
86FOXO3_23340844_ChIP-Seq_DLD1_Human0.50380168
87STAT1_17558387_ChIP-Seq_HELA_Human0.50348405
88CDX2_19796622_ChIP-Seq_MESCs_Mouse0.50322308
89FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50258580
90PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.50008509
91* CBP_21632823_ChIP-Seq_H3396_Human0.49046149
92E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.49022907
93GATA6_25053715_ChIP-Seq_YYC3_Human0.48739701
94CBX2_22325352_ChIP-Seq_293T-Rex_Human0.48725041
95EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.48362984
96NFIB_24661679_ChIP-Seq_LUNG_Mouse0.48338819
97SMC4_20622854_ChIP-Seq_HELA_Human0.48291625
98PIAS1_25552417_ChIP-Seq_VCAP_Human0.48283369
99DNAJC2_21179169_ChIP-ChIP_NT2_Human0.48277971
100* EZH2_27294783_Chip-Seq_NPCs_Mouse0.47904197
101SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.47614661
102SPI1_20517297_ChIP-Seq_HL60_Human0.47291298
103TAF15_26573619_Chip-Seq_HEK293_Human0.46545189
104SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.46189024
105FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.46026798
106PU1_27457419_Chip-Seq_LIVER_Mouse0.45805685
107P53_21459846_ChIP-Seq_SAOS-2_Human0.45767172
108IRF1_19129219_ChIP-ChIP_H3396_Human0.45713190
109AR_21909140_ChIP-Seq_LNCAP_Human0.45690496
110TAF2_19829295_ChIP-Seq_ESCs_Human0.45672128
111PPAR_26484153_Chip-Seq_NCI-H1993_Human0.45459784
112* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.44592331
113PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.44516487
114ERG_21242973_ChIP-ChIP_JURKAT_Human0.44460256
115PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.43200626
116GATA2_19941826_ChIP-Seq_K562_Human0.41927081
117GATA1_19941826_ChIP-Seq_K562_Human0.41517531
118GATA1_19941827_ChIP-Seq_MEL_Mouse0.41063755
119GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.40483543
120SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.40458925
121NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.40190180
122CDX2_22108803_ChIP-Seq_LS180_Human0.39810841
123STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.38474716
124BCAT_22108803_ChIP-Seq_LS180_Human0.38128933
125SOX2_20726797_ChIP-Seq_SW620_Human0.37676398
126ESR1_20079471_ChIP-ChIP_T-47D_Human0.37550353
127EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.37240805
128FOXH1_21741376_ChIP-Seq_EPCs_Human0.37196725
129* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.37098202
130ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.36665758
131GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.36508924
132CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.36465471
133ERG_20517297_ChIP-Seq_VCAP_Human0.36350622

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.19271675
2MP0005360_urolithiasis7.84643402
3MP0005085_abnormal_gallbladder_physiolo6.29102098
4MP0005365_abnormal_bile_salt6.05681341
5MP0008875_abnormal_xenobiotic_pharmacok5.09517418
6MP0003806_abnormal_nucleotide_metabolis4.08582020
7MP0003252_abnormal_bile_duct3.96039361
8MP0010329_abnormal_lipoprotein_level3.34799598
9MP0003195_calcinosis3.14267477
10* MP0005332_abnormal_amino_acid3.05152675
11MP0005083_abnormal_biliary_tract3.04626546
12MP0009840_abnormal_foam_cell2.90422402
13MP0001666_abnormal_nutrient_absorption2.66117821
14MP0004019_abnormal_vitamin_homeostasis2.52809806
15MP0002138_abnormal_hepatobiliary_system2.32291031
16MP0003191_abnormal_cellular_cholesterol2.14257450
17MP0000609_abnormal_liver_physiology2.06563553
18MP0002118_abnormal_lipid_homeostasis2.04366190
19MP0003868_abnormal_feces_composition1.87366874
20MP0005319_abnormal_enzyme/_coenzyme1.85138309
21MP0001764_abnormal_homeostasis1.69277434
22MP0005584_abnormal_enzyme/coenzyme_acti1.62217708
23* MP0009643_abnormal_urine_homeostasis1.54245878
24MP0005451_abnormal_body_composition1.48177958
25MP0003186_abnormal_redox_activity1.40320036
26MP0009697_abnormal_copulation1.35818458
27MP0002132_abnormal_respiratory_system1.22848455
28MP0005636_abnormal_mineral_homeostasis1.20278475
29MP0003011_delayed_dark_adaptation1.18564094
30MP0000598_abnormal_liver_morphology1.15969474
31MP0000566_synostosis1.15792837
32MP0001915_intracranial_hemorrhage1.15612574
33MP0003656_abnormal_erythrocyte_physiolo1.14476367
34MP0003705_abnormal_hypodermis_morpholog1.08557957
35MP0005647_abnormal_sex_gland1.05688628
36MP0009764_decreased_sensitivity_to1.05041184
37MP0005084_abnormal_gallbladder_morpholo1.00970607
38MP0000604_amyloidosis0.97298466
39MP0009763_increased_sensitivity_to0.94782431
40MP0006036_abnormal_mitochondrial_physio0.92277022
41MP0005670_abnormal_white_adipose0.89854692
42MP0005220_abnormal_exocrine_pancreas0.89304038
43MP0001756_abnormal_urination0.88975496
44MP0003122_maternal_imprinting0.88649161
45MP0008469_abnormal_protein_level0.88150750
46MP0002254_reproductive_system_inflammat0.87674217
47* MP0009642_abnormal_blood_homeostasis0.87641747
48MP0004043_abnormal_pH_regulation0.85495305
49MP0002876_abnormal_thyroid_physiology0.84341835
50MP0010368_abnormal_lymphatic_system0.79578858
51MP0002078_abnormal_glucose_homeostasis0.77828178
52MP0009765_abnormal_xenobiotic_induced0.76541538
53MP0005376_homeostasis/metabolism_phenot0.76494396
54MP0005535_abnormal_body_temperature0.75545960
55MP0002089_abnormal_postnatal_growth/wei0.75039190
56MP0002136_abnormal_kidney_physiology0.74369291
57MP0003879_abnormal_hair_cell0.73831420
58MP0002282_abnormal_trachea_morphology0.71206066
59MP0001661_extended_life_span0.70244993
60MP0002971_abnormal_brown_adipose0.68325368
61MP0004130_abnormal_muscle_cell0.64289909
62MP0005334_abnormal_fat_pad0.63938821
63MP0002928_abnormal_bile_duct0.63704127
64MP0005187_abnormal_penis_morphology0.61823625
65MP0005266_abnormal_metabolism0.61782869
66MP0003329_amyloid_beta_deposits0.61312176
67MP0003690_abnormal_glial_cell0.60930725
68MP0006035_abnormal_mitochondrial_morpho0.58562132
69MP0009053_abnormal_anal_canal0.57050460
70MP0001765_abnormal_ion_homeostasis0.56314926
71MP0005023_abnormal_wound_healing0.53089425
72MP0005395_other_phenotype0.51908869
73MP0005448_abnormal_energy_balance0.49967032
74MP0000639_abnormal_adrenal_gland0.49546609
75MP0004272_abnormal_basement_membrane0.47096139
76MP0002249_abnormal_larynx_morphology0.45905799
77MP0005164_abnormal_response_to0.45905493
78MP0005666_abnormal_adipose_tissue0.45622477
79MP0005058_abnormal_lysosome_morphology0.43905149
80MP0003172_abnormal_lysosome_physiology0.43665106
81MP0008874_decreased_physiological_sensi0.43543734
82MP0002168_other_aberrant_phenotype0.43423004
83MP0000230_abnormal_systemic_arterial0.43246988
84MP0005464_abnormal_platelet_physiology0.42241770
85MP0008873_increased_physiological_sensi0.42030040
86MP0004883_abnormal_blood_vessel0.41208478
87* MP0003953_abnormal_hormone_level0.41008206
88MP0005377_hearing/vestibular/ear_phenot0.39843760
89MP0003878_abnormal_ear_physiology0.39843760
90MP0003724_increased_susceptibility_to0.39793333
91MP0003718_maternal_effect0.39484193
92MP0004782_abnormal_surfactant_physiolog0.39320512
93MP0008872_abnormal_physiological_respon0.39318871
94MP0002837_dystrophic_cardiac_calcinosis0.38633538
95MP0009672_abnormal_birth_weight0.38438138
96MP0002822_catalepsy0.38215175
97MP0003075_altered_response_to0.37747709
98* MP0003638_abnormal_response/metabolism_0.37315064
99MP0002796_impaired_skin_barrier0.36501778
100MP0005166_decreased_susceptibility_to0.36207302
101MP0005167_abnormal_blood-brain_barrier0.34505560
102MP0009384_cardiac_valve_regurgitation0.33319730
103MP0002135_abnormal_kidney_morphology0.32534748
104MP0003632_abnormal_nervous_system0.31935720
105MP0003436_decreased_susceptibility_to0.31797767
106MP0005409_darkened_coat_color0.31278968
107MP0000920_abnormal_myelination0.31184052
108MP0000538_abnormal_urinary_bladder0.30606685
109MP0005248_abnormal_Harderian_gland0.30303206
110MP0004264_abnormal_extraembryonic_tissu0.29839961
111MP0009115_abnormal_fat_cell0.29577662
112MP0000579_abnormal_nail_morphology0.29566371
113MP0001845_abnormal_inflammatory_respons0.28948071
114MP0003959_abnormal_lean_body0.28857262
115* MP0005408_hypopigmentation0.27994680
116MP0002970_abnormal_white_adipose0.27413235
117MP0004381_abnormal_hair_follicle0.27365783
118MP0006082_CNS_inflammation0.26938821
119MP0009780_abnormal_chondrocyte_physiolo0.26580522
120MP0003943_abnormal_hepatobiliary_system0.26417982
121MP0005410_abnormal_fertilization0.25566433
122MP0000249_abnormal_blood_vessel0.25505599
123MP0010234_abnormal_vibrissa_follicle0.25182124
124MP0009785_altered_susceptibility_to0.24869373
125MP0002128_abnormal_blood_circulation0.24307537
126MP0003123_paternal_imprinting0.23168255
127MP0003633_abnormal_nervous_system0.22082738
128MP0003631_nervous_system_phenotype0.21287856

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.00494250
2Deep venous thrombosis (HP:0002625)6.83801440
3* Abnormality of aromatic amino acid family metabolism (HP:0004338)6.77846579
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.43384646
5Xanthomatosis (HP:0000991)6.03700782
6Prolonged partial thromboplastin time (HP:0003645)5.96794883
7Hypobetalipoproteinemia (HP:0003563)5.87767181
8Hyperlipoproteinemia (HP:0010980)5.10900505
9Complement deficiency (HP:0004431)4.97020263
10Hyperammonemia (HP:0001987)4.72430420
11Abnormality of glutamine family amino acid metabolism (HP:0010902)4.70835482
12Hyperglycinemia (HP:0002154)4.60629162
13Ketosis (HP:0001946)4.52015264
14Hyperglycinuria (HP:0003108)4.47728765
15Joint hemorrhage (HP:0005261)4.43560310
16Hypolipoproteinemia (HP:0010981)4.37510386
17Abnormality of aspartate family amino acid metabolism (HP:0010899)4.37320259
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.34406068
19Abnormality of glycine metabolism (HP:0010895)4.32489382
20Abnormality of serine family amino acid metabolism (HP:0010894)4.32489382
21Epidermoid cyst (HP:0200040)4.26764718
22Abnormality of methionine metabolism (HP:0010901)4.13136215
23Abnormality of the common coagulation pathway (HP:0010990)4.12348833
24Fat malabsorption (HP:0002630)4.03279175
25Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.01095626
26Hypoalphalipoproteinemia (HP:0003233)3.80047809
27Hypoglycemic coma (HP:0001325)3.79266887
28Abnormality of pyrimidine metabolism (HP:0004353)3.79140138
29Nephritis (HP:0000123)3.78172687
30Conjugated hyperbilirubinemia (HP:0002908)3.58824910
31Abnormality of complement system (HP:0005339)3.58782082
32Abnormality of fatty-acid metabolism (HP:0004359)3.56533322
33Gout (HP:0001997)3.55896926
34Abnormality of the intrinsic pathway (HP:0010989)3.51053650
35Ketoacidosis (HP:0001993)3.42955520
36Abnormality of nucleobase metabolism (HP:0010932)3.41980914
37Hypercholesterolemia (HP:0003124)3.35252115
38Delayed CNS myelination (HP:0002188)3.32106654
39Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.28525054
40Hyperbilirubinemia (HP:0002904)3.23938140
41Abnormality of purine metabolism (HP:0004352)3.23401302
42Abnormality of serum amino acid levels (HP:0003112)3.21040261
43Steatorrhea (HP:0002570)3.05915298
44Hepatocellular carcinoma (HP:0001402)3.01680372
45Osteomalacia (HP:0002749)2.95071074
46Metabolic acidosis (HP:0001942)2.93986831
47Purpura (HP:0000979)2.83914252
48Vascular calcification (HP:0004934)2.83070268
49Lethargy (HP:0001254)2.78764542
50Dicarboxylic aciduria (HP:0003215)2.77800471
51Abnormality of dicarboxylic acid metabolism (HP:0010995)2.77800471
52Myocardial infarction (HP:0001658)2.72951228
53Spontaneous abortion (HP:0005268)2.65948189
54Skin nodule (HP:0200036)2.62526543
55Hypochromic microcytic anemia (HP:0004840)2.62491641
56Generalized aminoaciduria (HP:0002909)2.62177093
57Systemic lupus erythematosus (HP:0002725)2.58003053
58Alkalosis (HP:0001948)2.57814580
59Spastic diplegia (HP:0001264)2.55662940
60Cerebral edema (HP:0002181)2.52716794
61Cardiovascular calcification (HP:0011915)2.51029367
62Proximal tubulopathy (HP:0000114)2.47845183
63Neonatal onset (HP:0003623)2.46164856
64Hyperuricemia (HP:0002149)2.42594051
65Increased purine levels (HP:0004368)2.42594051
66Malnutrition (HP:0004395)2.40073218
67Hypoglycemic seizures (HP:0002173)2.35560312
68Enlarged kidneys (HP:0000105)2.34095687
69Acanthocytosis (HP:0001927)2.33255543
70Mitral stenosis (HP:0001718)2.31067196
71Vomiting (HP:0002013)2.30159313
72* Irritability (HP:0000737)2.29586821
73Arthropathy (HP:0003040)2.28800481
74Abnormal gallbladder morphology (HP:0012437)2.27397656
75Pulmonary embolism (HP:0002204)2.25787839
76Glomerulonephritis (HP:0000099)2.24839699
77Hydroxyprolinuria (HP:0003080)2.23918383
78Abnormality of proline metabolism (HP:0010907)2.23918383
79Sensorimotor neuropathy (HP:0007141)2.22905714
80Pancreatitis (HP:0001733)2.22346122
81Cholelithiasis (HP:0001081)2.21782704
82Rickets (HP:0002748)2.21104873
83Late onset (HP:0003584)2.19742814
84Glycosuria (HP:0003076)2.16043608
85Abnormality of urine glucose concentration (HP:0011016)2.16043608
86Esophageal varix (HP:0002040)2.13689349
87Recurrent gram-negative bacterial infections (HP:0005420)2.12999129
88Reduced antithrombin III activity (HP:0001976)2.11717329
89Abnormal gallbladder physiology (HP:0012438)2.11142373
90Cholecystitis (HP:0001082)2.11142373
91Abnormality of the Achilles tendon (HP:0005109)2.09047833
92Abnormal enzyme/coenzyme activity (HP:0012379)2.07945898
93Hyperphosphaturia (HP:0003109)2.06055084
94Brushfield spots (HP:0001088)2.02654553
95Opisthotonus (HP:0002179)2.01288806
96Bifid scrotum (HP:0000048)2.00431852
97Amyloidosis (HP:0011034)1.99163804
98Thrombophlebitis (HP:0004418)1.96975368
99Menorrhagia (HP:0000132)1.96410646
100Facial shape deformation (HP:0011334)1.96228890
101Potter facies (HP:0002009)1.96228890
102Hypophosphatemic rickets (HP:0004912)1.95951365
103Poikilocytosis (HP:0004447)1.95654006
104Joint swelling (HP:0001386)1.92420988
105Abnormal cartilage morphology (HP:0002763)1.91593114
106Abnormal tarsal ossification (HP:0008369)1.90417027
107Hyperinsulinemic hypoglycemia (HP:0000825)1.89256385
108Gingival bleeding (HP:0000225)1.88903801
109Abnormality of the gallbladder (HP:0005264)1.88546708
110Renal cortical cysts (HP:0000803)1.84249078
111Abnormality of alkaline phosphatase activity (HP:0004379)1.83200803
112Hemorrhage of the eye (HP:0011885)1.81735328
113Elevated alkaline phosphatase (HP:0003155)1.81245745
114Abnormality of vitamin metabolism (HP:0100508)1.81010131
115Increased serum pyruvate (HP:0003542)1.80217330
116Abnormality of transition element cation homeostasis (HP:0011030)1.80186037
117Epistaxis (HP:0000421)1.78650712
118Abnormal urine phosphate concentration (HP:0012599)1.70556577
119Abnormality of carpal bone ossification (HP:0006257)1.67680890
120Increased serum ferritin (HP:0003281)1.67245492
121Abnormal delivery (HP:0001787)1.65275414
122Increased mean platelet volume (HP:0011877)1.64650196
123Gangrene (HP:0100758)1.64465424
124Abnormality of iron homeostasis (HP:0011031)1.61863754
125Abnormality of glycolysis (HP:0004366)1.56630217
126Neonatal hypoglycemia (HP:0001998)1.55907447
127Abnormal platelet function (HP:0011869)1.47168597

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.51310684
2FGFR44.29296397
3SIK14.06418832
4ERN14.00419963
5INSRR2.91960841
6ERBB42.74018503
7TAOK32.66390625
8PIK3CA2.43155990
9MST1R2.23595138
10MAP2K42.13352787
11CDK122.10490505
12WNK42.08675404
13PKN22.05538975
14MAPK111.86622205
15WNK31.84967061
16TRIB31.67641524
17FLT31.67460177
18FGFR11.66182066
19LATS11.65201192
20PIK3CG1.64709990
21FRK1.61856527
22NTRK31.61372900
23MAP3K21.60263902
24OXSR11.53405061
25TYK21.50936162
26STK38L1.48777901
27ABL21.48535987
28AKT31.43812247
29PTK61.41246618
30PDGFRA1.40278857
31PINK11.30189995
32NEK91.30156428
33DAPK21.29201671
34MAP3K71.25428382
35FGFR21.23295164
36JAK21.13666918
37PRKAA21.13149399
38EPHA21.13001973
39KDR1.11520473
40GRK61.11391033
41EIF2AK11.01838038
42MAP2K30.97455036
43MAP3K140.93843940
44ERBB20.92942996
45PRKCZ0.91661467
46MAP3K30.89481592
47TYRO30.88597429
48TBK10.88150296
49EPHB10.86926288
50BRSK20.86717242
51MAPK40.86078326
52JAK10.85967329
53MET0.85499606
54SGK30.82814155
55TIE10.81515602
56MAPK150.80202841
57MAP3K100.80109392
58SGK4940.79438437
59SGK2230.79438437
60GSK3A0.79229195
61PDK30.77528370
62PDK40.77528370
63DYRK1B0.75985763
64MAPK120.75105224
65CSNK1E0.75089884
66SGK10.74289033
67MAP3K10.73860766
68PRKAA10.73098230
69NLK0.72485669
70KSR20.70012157
71SGK20.69948210
72CDK60.67748925
73PRKG10.67047958
74CSNK1D0.64973093
75TGFBR20.63974568
76IRAK30.63695850
77LATS20.63512800
78MAP3K110.63134439
79MAPKAPK30.62261475
80MAP2K60.62005380
81* PRKACG0.60594623
82CSK0.60542675
83PTK20.60492327
84CAMK2G0.60487395
85PDPK10.57428799
86RIPK10.57060805
87WNK10.55598493
88CAMK1D0.55455171
89BCR0.55234526
90EPHA30.54885530
91SIK20.54437958
92FER0.53696964
93RPS6KB10.52727698
94STK390.52241187
95MAP3K120.51680857
96SCYL20.50193422
97CDK70.49034450
98FGFR30.49020433
99CAMKK20.48684416
100MAPK70.48189987
101SRC0.47507315
102NEK10.46028406
103PRKCQ0.45634740
104PRKCB0.44566741
105EEF2K0.44465805
106CSNK1G10.44216964
107DDR20.43611274
108IKBKE0.42334736
109* PRKACA0.41542490
110GRK10.41297191
111PDK20.41249372
112IGF1R0.41005955
113MAP2K10.40548527
114CSF1R0.40520936
115EPHA40.40301551
116PRPF4B0.39913853
117PRKACB0.38977607
118MAP3K50.38280467
119CSNK2A10.38085028
120MAP3K130.37872654
121CSNK2A20.36831149
122PDK10.36823732
123* RPS6KA30.36743495
124IRAK20.35837089
125TAOK20.35179893
126PRKCG0.34913551
127STK380.33694815
128RET0.33199850
129BRSK10.32997933
130MTOR0.32556475
131IRAK10.30968936
132PKN10.30311964
133MAP3K60.29801241
134CDK40.29272253
135EGFR0.28643546
136MAP2K20.27697548
137PAK30.26240157
138PRKCA0.25797426
139CAMK40.25427292
140ICK0.24564518

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.36535838
2Nitrogen metabolism_Homo sapiens_hsa009103.55942384
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.49601497
4Arginine biosynthesis_Homo sapiens_hsa002203.03428487
5Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.77173004
6Tryptophan metabolism_Homo sapiens_hsa003802.74688367
7Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.61980829
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.61612880
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.56622194
10Complement and coagulation cascades_Homo sapiens_hsa046102.54262541
11Fatty acid degradation_Homo sapiens_hsa000712.53914887
12* Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.53383579
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.40471650
14Butanoate metabolism_Homo sapiens_hsa006502.35137709
15Peroxisome_Homo sapiens_hsa041462.17897755
16Propanoate metabolism_Homo sapiens_hsa006402.14954184
17Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.10243187
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.89258938
19Chemical carcinogenesis_Homo sapiens_hsa052041.87704965
20Histidine metabolism_Homo sapiens_hsa003401.87076686
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.85290568
22PPAR signaling pathway_Homo sapiens_hsa033201.83033015
23Fatty acid metabolism_Homo sapiens_hsa012121.83001771
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.79826462
25beta-Alanine metabolism_Homo sapiens_hsa004101.79332353
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.77562076
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.71400681
282-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.70740255
29Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.67204621
30Caffeine metabolism_Homo sapiens_hsa002321.66405787
31Retinol metabolism_Homo sapiens_hsa008301.62822986
32Selenocompound metabolism_Homo sapiens_hsa004501.59660819
33Staphylococcus aureus infection_Homo sapiens_hsa051501.57124805
34Bile secretion_Homo sapiens_hsa049761.54085304
35Pyruvate metabolism_Homo sapiens_hsa006201.51392859
36Sulfur metabolism_Homo sapiens_hsa009201.41880602
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.39296798
38Tyrosine metabolism_Homo sapiens_hsa003501.37287133
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.33737602
40Starch and sucrose metabolism_Homo sapiens_hsa005001.32885224
41Cyanoamino acid metabolism_Homo sapiens_hsa004601.29086741
42Fatty acid elongation_Homo sapiens_hsa000621.27725954
43Folate biosynthesis_Homo sapiens_hsa007901.24686953
44* Phenylalanine metabolism_Homo sapiens_hsa003601.23439160
45Carbon metabolism_Homo sapiens_hsa012001.22732828
46* Biosynthesis of amino acids_Homo sapiens_hsa012301.17042574
47Steroid biosynthesis_Homo sapiens_hsa001001.16765424
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.16533808
49ABC transporters_Homo sapiens_hsa020101.13529404
50Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.12798889
51Fat digestion and absorption_Homo sapiens_hsa049751.11810987
52Arginine and proline metabolism_Homo sapiens_hsa003301.06048872
53Maturity onset diabetes of the young_Homo sapiens_hsa049501.02859321
54Vitamin digestion and absorption_Homo sapiens_hsa049771.00921496
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.93535761
56Lysine degradation_Homo sapiens_hsa003100.88891494
57Sulfur relay system_Homo sapiens_hsa041220.88718787
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.83470843
59Vitamin B6 metabolism_Homo sapiens_hsa007500.83432518
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76511498
61Glutathione metabolism_Homo sapiens_hsa004800.76144130
62Glycerolipid metabolism_Homo sapiens_hsa005610.75221314
63Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.72880278
64One carbon pool by folate_Homo sapiens_hsa006700.71599792
65Pentose phosphate pathway_Homo sapiens_hsa000300.58323939
66* Metabolic pathways_Homo sapiens_hsa011000.48411814
67Fatty acid biosynthesis_Homo sapiens_hsa000610.43013412
68Pertussis_Homo sapiens_hsa051330.37950724
69Other glycan degradation_Homo sapiens_hsa005110.30091216
70Fructose and mannose metabolism_Homo sapiens_hsa000510.30077648
71Prion diseases_Homo sapiens_hsa050200.28614375
72Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.27720450
73Galactose metabolism_Homo sapiens_hsa000520.23824495
74alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.23497211
75Insulin resistance_Homo sapiens_hsa049310.22190381
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.20911790
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.20250890
78Linoleic acid metabolism_Homo sapiens_hsa005910.17364923
79Glycerophospholipid metabolism_Homo sapiens_hsa005640.11666761
80Glucagon signaling pathway_Homo sapiens_hsa049220.08700961
81AMPK signaling pathway_Homo sapiens_hsa041520.02401107
82Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2377793
83Lysosome_Homo sapiens_hsa04142-0.2194402
84African trypanosomiasis_Homo sapiens_hsa05143-0.2130981
85ECM-receptor interaction_Homo sapiens_hsa04512-0.2095842
86Systemic lupus erythematosus_Homo sapiens_hsa05322-0.2022813
87Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1871702
88Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1792799
89Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1786934
90Hepatitis C_Homo sapiens_hsa05160-0.1725963
91Mineral absorption_Homo sapiens_hsa04978-0.1704417
92Circadian rhythm_Homo sapiens_hsa04710-0.1683577
93Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1336862
94Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1283817
95Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1232477
96Serotonergic synapse_Homo sapiens_hsa04726-0.1218739
97Insulin signaling pathway_Homo sapiens_hsa04910-0.1188816
98Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1179151
99Regulation of autophagy_Homo sapiens_hsa04140-0.1161603
100Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0988574
101Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0948631
102Protein digestion and absorption_Homo sapiens_hsa04974-0.0928364
103Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0921927
104Sphingolipid metabolism_Homo sapiens_hsa00600-0.0838973
105Renin-angiotensin system_Homo sapiens_hsa04614-0.0801609
106Amoebiasis_Homo sapiens_hsa05146-0.0579976
107N-Glycan biosynthesis_Homo sapiens_hsa00510-0.0334322
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0242947

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