FH

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 is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.40648322
2nuclear pore complex assembly (GO:0051292)4.30313915
3NADH metabolic process (GO:0006734)4.18237049
4mitotic chromosome condensation (GO:0007076)4.16620792
5* tricarboxylic acid cycle (GO:0006099)4.09790346
6formation of translation preinitiation complex (GO:0001731)4.03992148
7DNA unwinding involved in DNA replication (GO:0006268)3.94525260
8nucleobase-containing small molecule interconversion (GO:0015949)3.94297475
9DNA strand elongation involved in DNA replication (GO:0006271)3.90826044
10oxidative phosphorylation (GO:0006119)3.87051766
11regulation of translational fidelity (GO:0006450)3.85550466
12nuclear pore organization (GO:0006999)3.80151994
13DNA strand elongation (GO:0022616)3.78415850
14mitotic sister chromatid segregation (GO:0000070)3.64976605
15telomere maintenance via semi-conservative replication (GO:0032201)3.56524488
16ribosomal large subunit biogenesis (GO:0042273)3.55220715
17establishment of integrated proviral latency (GO:0075713)3.54342022
18ATP synthesis coupled proton transport (GO:0015986)3.50709035
19energy coupled proton transport, down electrochemical gradient (GO:0015985)3.50709035
20oxaloacetate metabolic process (GO:0006107)3.49934226
21ribosomal small subunit biogenesis (GO:0042274)3.48657880
22L-serine metabolic process (GO:0006563)3.47934612
23sister chromatid segregation (GO:0000819)3.33613077
24ribosome assembly (GO:0042255)3.27311122
25DNA replication checkpoint (GO:0000076)3.24596796
26mitotic metaphase plate congression (GO:0007080)3.24319591
27pore complex assembly (GO:0046931)3.22213660
28regulation of mitochondrial translation (GO:0070129)3.20203966
29anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.18988400
30regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.16522240
31negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.13738512
32purine nucleobase biosynthetic process (GO:0009113)3.12782238
33COPI coating of Golgi vesicle (GO:0048205)3.12018757
34Golgi transport vesicle coating (GO:0048200)3.12018757
35protein localization to chromosome, centromeric region (GO:0071459)3.11886894
36IMP metabolic process (GO:0046040)3.09801956
37tRNA aminoacylation for protein translation (GO:0006418)3.09255022
38proteasome assembly (GO:0043248)3.08111739
39regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.07431768
40IMP biosynthetic process (GO:0006188)3.06193180
41maturation of SSU-rRNA (GO:0030490)3.04640265
42mitotic nuclear envelope disassembly (GO:0007077)3.04552771
43regulation of mitotic spindle organization (GO:0060236)3.01847211
44viral transcription (GO:0019083)3.01506372
45proline biosynthetic process (GO:0006561)3.00933828
46serine family amino acid biosynthetic process (GO:0009070)3.00870544
47tRNA aminoacylation (GO:0043039)3.00584799
48amino acid activation (GO:0043038)3.00584799
49protein localization to kinetochore (GO:0034501)3.00558135
50deoxyribonucleotide biosynthetic process (GO:0009263)2.99969936
51urea metabolic process (GO:0019627)2.99405305
52ribonucleoprotein complex biogenesis (GO:0022613)2.99019238
53positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.98095822
54gluconeogenesis (GO:0006094)2.97660374
55respiratory electron transport chain (GO:0022904)2.96639805
56translational termination (GO:0006415)2.95867220
57folic acid metabolic process (GO:0046655)2.94612645
58urea cycle (GO:0000050)2.93546872
59ribosomal small subunit assembly (GO:0000028)2.92968298
60DNA replication initiation (GO:0006270)2.92891362
61negative regulation of ligase activity (GO:0051352)2.91225329
62negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.91225329
63SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.89568331
64telomere maintenance via recombination (GO:0000722)2.86410485
65cotranslational protein targeting to membrane (GO:0006613)2.84825482
66folic acid-containing compound biosynthetic process (GO:0009396)2.84779318
67electron transport chain (GO:0022900)2.84131641
68nucleobase biosynthetic process (GO:0046112)2.83698728
69translational initiation (GO:0006413)2.83507805
70nuclear envelope disassembly (GO:0051081)2.81665307
71membrane disassembly (GO:0030397)2.81665307
72protein targeting to ER (GO:0045047)2.80724207
73metaphase plate congression (GO:0051310)2.80682551
74tetrahydrofolate metabolic process (GO:0046653)2.80270399
75mitotic recombination (GO:0006312)2.80009753
76hexose biosynthetic process (GO:0019319)2.77920542
77CENP-A containing nucleosome assembly (GO:0034080)2.76350765
78establishment of protein localization to endoplasmic reticulum (GO:0072599)2.76045253
79nitrogen cycle metabolic process (GO:0071941)2.74723773
80kinetochore organization (GO:0051383)2.72080529
81mitochondrial fusion (GO:0008053)2.72043141
82monosaccharide biosynthetic process (GO:0046364)2.71719664
83erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.71711724
84L-phenylalanine metabolic process (GO:0006558)2.71711724
85ventricular cardiac muscle cell development (GO:0055015)2.71022541
86aerobic respiration (GO:0009060)2.70635001
87regulation of spindle organization (GO:0090224)2.70622711
88glyoxylate metabolic process (GO:0046487)2.70302430
89positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.70012975
90protein localization to endoplasmic reticulum (GO:0070972)2.69455698
91establishment of viral latency (GO:0019043)2.69373997
92ribosome biogenesis (GO:0042254)2.68859413
93muscle filament sliding (GO:0030049)2.68507738
94actin-myosin filament sliding (GO:0033275)2.68507738
95mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.67965151
96translational elongation (GO:0006414)2.67948514
97protein maturation by protein folding (GO:0022417)2.66617731
98inner mitochondrial membrane organization (GO:0007007)2.65059420
99DNA topological change (GO:0006265)2.62743413
100midgut development (GO:0007494)2.62704398

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.37513800
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.33100574
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.01760132
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.69007574
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.58757189
6HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.54844402
7E2F4_17652178_ChIP-ChIP_JURKAT_Human3.12411762
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.06174056
9MYC_18358816_ChIP-ChIP_MESCs_Mouse2.96025092
10AR_21909140_ChIP-Seq_LNCAP_Human2.92701593
11FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.92117155
12MYC_19079543_ChIP-ChIP_MESCs_Mouse2.86227264
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.84587705
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.77937060
15GABP_17652178_ChIP-ChIP_JURKAT_Human2.63164313
16PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.56824660
17NELFA_20434984_ChIP-Seq_ESCs_Mouse2.50828821
18THAP11_20581084_ChIP-Seq_MESCs_Mouse2.49875933
19ETS1_20019798_ChIP-Seq_JURKAT_Human2.46928890
20MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.46745906
21EST1_17652178_ChIP-ChIP_JURKAT_Human2.41704491
22ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.32609630
23* XRN2_22483619_ChIP-Seq_HELA_Human2.31464243
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.29278105
25E2F1_18555785_ChIP-Seq_MESCs_Mouse2.24879047
26CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.22689557
27DCP1A_22483619_ChIP-Seq_HELA_Human2.21995349
28ZNF263_19887448_ChIP-Seq_K562_Human2.19901582
29ZFX_18555785_ChIP-Seq_MESCs_Mouse2.18360874
30NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.04828061
31MYCN_18555785_ChIP-Seq_MESCs_Mouse1.97049973
32E2F1_21310950_ChIP-Seq_MCF-7_Human1.88076686
33POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.87131579
34TTF2_22483619_ChIP-Seq_HELA_Human1.85515169
35ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.83400500
36PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.74920541
37ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.71557620
38PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.66095417
39GABP_19822575_ChIP-Seq_HepG2_Human1.63757982
40SRF_21415370_ChIP-Seq_HL-1_Mouse1.63746044
41YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.62232544
42ELK1_19687146_ChIP-ChIP_HELA_Human1.61896455
43CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.61867849
44KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.61057827
45PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.59555410
46MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.54423789
47TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.54389501
48FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.49623747
49NANOG_18555785_ChIP-Seq_MESCs_Mouse1.48926434
50FOXP3_21729870_ChIP-Seq_TREG_Human1.37953076
51KLF4_18555785_ChIP-Seq_MESCs_Mouse1.37363354
52DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.37084401
53HOXB4_20404135_ChIP-ChIP_EML_Mouse1.35186370
54CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.29468284
55CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.28878362
56VDR_23849224_ChIP-Seq_CD4+_Human1.28788414
57ESR1_15608294_ChIP-ChIP_MCF-7_Human1.27181216
58STAT3_1855785_ChIP-Seq_MESCs_Mouse1.25654768
59YY1_21170310_ChIP-Seq_MESCs_Mouse1.25367009
60HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.24058084
61TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.22674592
62* KDM5A_27292631_Chip-Seq_BREAST_Human1.22546491
63SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.21725624
64CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.21441266
65POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.20810366
66CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.19330142
67HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.17416615
68SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.17299268
69SOX17_20123909_ChIP-Seq_XEN_Mouse1.17228961
70ERG_20887958_ChIP-Seq_HPC-7_Mouse1.16163987
71PADI4_21655091_ChIP-ChIP_MCF-7_Human1.15028983
72ELF1_17652178_ChIP-ChIP_JURKAT_Human1.14291870
73* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.14246333
74POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.12767020
75BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.12197721
76HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.11139947
77CLOCK_20551151_ChIP-Seq_293T_Human1.10788734
78TFEB_21752829_ChIP-Seq_HELA_Human1.09925583
79CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.09779991
80SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.09244845
81TBX5_21415370_ChIP-Seq_HL-1_Mouse1.07425111
82TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.05736949
83TP63_17297297_ChIP-ChIP_HaCaT_Human1.05153661
84GATA4_21415370_ChIP-Seq_HL-1_Mouse1.02242141
85* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.01888673
86NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.01587038
87CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.00962797
88TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.00289360
89TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.93817496
90MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.93257268
91KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.92862208
92ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.91790357
93KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.91384528
94OCT4_18692474_ChIP-Seq_MEFs_Mouse0.90544103
95SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.89988859
96SOX2_18692474_ChIP-Seq_MEFs_Mouse0.86358851
97CHD1_26751641_Chip-Seq_LNCaP_Human0.86078773
98TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85519763
99NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.84248695
100ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.83975022

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability3.46750053
2MP0003806_abnormal_nucleotide_metabolis3.37231753
3MP0003693_abnormal_embryo_hatching3.28509605
4MP0004957_abnormal_blastocyst_morpholog3.27649071
5MP0003111_abnormal_nucleus_morphology3.07995703
6MP0002139_abnormal_hepatobiliary_system2.81626535
7MP0009697_abnormal_copulation2.79184980
8MP0003077_abnormal_cell_cycle2.71296527
9MP0005451_abnormal_body_composition2.67476723
10MP0008932_abnormal_embryonic_tissue2.62147630
11MP0004233_abnormal_muscle_weight2.59985224
12MP0000751_myopathy2.53000812
13MP0008058_abnormal_DNA_repair2.52320841
14MP0000749_muscle_degeneration2.37315850
15MP0006036_abnormal_mitochondrial_physio2.23812083
16MP0005330_cardiomyopathy2.05235790
17MP0008057_abnormal_DNA_replication2.03067160
18MP0003186_abnormal_redox_activity1.99035996
19MP0008007_abnormal_cellular_replicative1.92609741
20MP0001661_extended_life_span1.89725182
21MP0004145_abnormal_muscle_electrophysio1.84245979
22MP0002269_muscular_atrophy1.82395091
23MP0002877_abnormal_melanocyte_morpholog1.82079496
24MP0001730_embryonic_growth_arrest1.78072232
25MP0000747_muscle_weakness1.73650051
26MP0005360_urolithiasis1.72907076
27MP0003705_abnormal_hypodermis_morpholog1.71388981
28MP0004036_abnormal_muscle_relaxation1.70596024
29MP0003646_muscle_fatigue1.60792332
30MP0004087_abnormal_muscle_fiber1.55726340
31MP0003718_maternal_effect1.55347819
32MP0010234_abnormal_vibrissa_follicle1.51692548
33MP0003221_abnormal_cardiomyocyte_apopto1.50577447
34MP0006035_abnormal_mitochondrial_morpho1.47069200
35MP0005085_abnormal_gallbladder_physiolo1.46752827
36MP0004084_abnormal_cardiac_muscle1.45220492
37MP0005408_hypopigmentation1.45075523
38MP0000759_abnormal_skeletal_muscle1.41605675
39MP0003786_premature_aging1.41362454
40MP0010030_abnormal_orbit_morphology1.40194932
41MP0002837_dystrophic_cardiac_calcinosis1.39626246
42MP0000350_abnormal_cell_proliferation1.37439798
43MP0005332_abnormal_amino_acid1.30341935
44MP0000372_irregular_coat_pigmentation1.28465733
45MP0004215_abnormal_myocardial_fiber1.28154413
46MP0001697_abnormal_embryo_size1.24790580
47MP0004147_increased_porphyrin_level1.22619795
48MP0002080_prenatal_lethality1.22557595
49MP0005365_abnormal_bile_salt1.18373590
50MP0009840_abnormal_foam_cell1.17293653
51MP0001672_abnormal_embryogenesis/_devel1.16757954
52MP0005380_embryogenesis_phenotype1.16757954
53MP0005257_abnormal_intraocular_pressure1.16553713
54MP0000750_abnormal_muscle_regeneration1.16165591
55MP0009672_abnormal_birth_weight1.15674675
56MP0002938_white_spotting1.13502219
57MP0000358_abnormal_cell_content/1.12087106
58MP0003868_abnormal_feces_composition1.09361990
59MP0001529_abnormal_vocalization1.09048993
60MP0010352_gastrointestinal_tract_polyps1.07784332
61MP0003984_embryonic_growth_retardation1.06470039
62MP0003950_abnormal_plasma_membrane1.05577922
63MP0002106_abnormal_muscle_physiology1.05219170
64MP0010630_abnormal_cardiac_muscle1.04938383
65MP0009379_abnormal_foot_pigmentation1.03339892
66MP0002972_abnormal_cardiac_muscle1.03015748
67MP0002088_abnormal_embryonic_growth/wei1.01027529
68MP0004185_abnormal_adipocyte_glucose0.96828668
69MP0005266_abnormal_metabolism0.94960549
70MP0005501_abnormal_skin_physiology0.93204097
71MP0003315_abnormal_perineum_morphology0.92680466
72MP0003656_abnormal_erythrocyte_physiolo0.92629686
73MP0000313_abnormal_cell_death0.92395591
74MP0001727_abnormal_embryo_implantation0.90110045
75MP0006138_congestive_heart_failure0.89236108
76MP0001764_abnormal_homeostasis0.88836210
77MP0008875_abnormal_xenobiotic_pharmacok0.88787509
78MP0002084_abnormal_developmental_patter0.83849135
79MP0003566_abnormal_cell_adhesion0.81694443
80MP0002085_abnormal_embryonic_tissue0.81082981
81MP0005385_cardiovascular_system_phenoty0.80159811
82MP0001544_abnormal_cardiovascular_syste0.80159811
83MP0005620_abnormal_muscle_contractility0.79177673
84MP0005369_muscle_phenotype0.78116708
85MP0008775_abnormal_heart_ventricle0.77145391
86MP0008789_abnormal_olfactory_epithelium0.75941898
87MP0001666_abnormal_nutrient_absorption0.75451683
88MP0002086_abnormal_extraembryonic_tissu0.73084701
89MP0000733_abnormal_muscle_development0.72854479
90MP0000003_abnormal_adipose_tissue0.72568896
91MP0002638_abnormal_pupillary_reflex0.72358342
92MP0002210_abnormal_sex_determination0.71911582
93MP0004272_abnormal_basement_membrane0.71093793
94MP0000609_abnormal_liver_physiology0.70074494
95MP0008438_abnormal_cutaneous_collagen0.69761761
96MP0000678_abnormal_parathyroid_gland0.66981188
97MP0005319_abnormal_enzyme/_coenzyme0.66352347
98MP0005666_abnormal_adipose_tissue0.65776082
99MP0010307_abnormal_tumor_latency0.65523964
100MP0003123_paternal_imprinting0.65052453

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolysis (HP:0004366)4.72767813
2Increased serum pyruvate (HP:0003542)4.59308949
3Nemaline bodies (HP:0003798)4.11841871
4Muscle fiber inclusion bodies (HP:0100299)4.01635084
5Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.98974655
6Exercise-induced muscle cramps (HP:0003710)3.55352530
7Rhabdomyolysis (HP:0003201)3.55255845
8Myoglobinuria (HP:0002913)3.39741940
9Cholecystitis (HP:0001082)3.36279204
10Abnormal gallbladder physiology (HP:0012438)3.36279204
11Abnormal mitochondria in muscle tissue (HP:0008316)3.25510165
12Acute encephalopathy (HP:0006846)3.22175836
13Cerebral edema (HP:0002181)3.17102583
14Acute necrotizing encephalopathy (HP:0006965)3.05875999
15Ragged-red muscle fibers (HP:0003200)3.02516432
16Exercise-induced myalgia (HP:0003738)3.00243896
17Abnormality of aromatic amino acid family metabolism (HP:0004338)2.90656469
18Abnormality of methionine metabolism (HP:0010901)2.74556517
19Increased intramyocellular lipid droplets (HP:0012240)2.74312671
20Progressive muscle weakness (HP:0003323)2.67760376
21Hepatic necrosis (HP:0002605)2.67461704
22Abnormality of monocarboxylic acid metabolism (HP:0010996)2.65790476
23Hyperammonemia (HP:0001987)2.63345619
24Hypobetalipoproteinemia (HP:0003563)2.61198322
25Reticulocytopenia (HP:0001896)2.55203797
26Centrally nucleated skeletal muscle fibers (HP:0003687)2.54687513
27Microvesicular hepatic steatosis (HP:0001414)2.52638647
28Exercise intolerance (HP:0003546)2.52457037
29Type 1 muscle fiber predominance (HP:0003803)2.50460474
30Increased CSF lactate (HP:0002490)2.50319497
31Increased muscle lipid content (HP:0009058)2.46884648
32Cholelithiasis (HP:0001081)2.46363915
33Increased connective tissue (HP:0009025)2.43327012
34Macrocytic anemia (HP:0001972)2.43008671
35Rimmed vacuoles (HP:0003805)2.42545616
36Hepatocellular necrosis (HP:0001404)2.40896345
37Mitochondrial inheritance (HP:0001427)2.39996337
38Cortical dysplasia (HP:0002539)2.38269646
39Chromosomal breakage induced by crosslinking agents (HP:0003221)2.37739842
40EMG: myopathic abnormalities (HP:0003458)2.37590199
41Increased hepatocellular lipid droplets (HP:0006565)2.37242871
42Decreased activity of mitochondrial respiratory chain (HP:0008972)2.36903812
43Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.36903812
44Lipid accumulation in hepatocytes (HP:0006561)2.32762755
45Chromsome breakage (HP:0040012)2.31837708
46Reduced antithrombin III activity (HP:0001976)2.27063230
47Gout (HP:0001997)2.26686558
48Myopathic facies (HP:0002058)2.26134029
49Achilles tendon contracture (HP:0001771)2.25693137
50Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.24602107
51* Lactic acidosis (HP:0003128)2.23945666
52Increased serum lactate (HP:0002151)2.23469048
53Progressive macrocephaly (HP:0004481)2.22680807
54Abnormality of reticulocytes (HP:0004312)2.21549945
55Abnormal gallbladder morphology (HP:0012437)2.19995418
56Calcaneovalgus deformity (HP:0001848)2.19681765
57Generalized aminoaciduria (HP:0002909)2.18965273
58Abnormality of the Achilles tendon (HP:0005109)2.18929383
59Multiple enchondromatosis (HP:0005701)2.12777807
60Abnormality of serum amino acid levels (HP:0003112)2.11546033
61Shoulder girdle muscle weakness (HP:0003547)2.11502129
62Hypoglycemic coma (HP:0001325)2.11176106
63Abnormality of alanine metabolism (HP:0010916)2.07718491
64Hyperalaninemia (HP:0003348)2.07718491
65Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.07718491
66Muscle stiffness (HP:0003552)2.06097146
67Reticulocytosis (HP:0001923)2.05608647
68Abnormality of fatty-acid metabolism (HP:0004359)2.04836058
69Distal lower limb muscle weakness (HP:0009053)2.04279048
70Neck muscle weakness (HP:0000467)2.03077810
71Abnormality of the tricuspid valve (HP:0001702)2.02224200
72Sudden death (HP:0001699)2.02217651
73Hypokinesia (HP:0002375)2.01184511
74Progressive external ophthalmoplegia (HP:0000590)1.95446803
75Dilated cardiomyopathy (HP:0001644)1.94663008
76Abnormality of pyrimidine metabolism (HP:0004353)1.93360429
77Abnormality of cells of the erythroid lineage (HP:0012130)1.92962154
78Hypolipoproteinemia (HP:0010981)1.90377527
79Prolonged partial thromboplastin time (HP:0003645)1.88041642
80Respiratory failure (HP:0002878)1.85562414
81Birth length less than 3rd percentile (HP:0003561)1.85135521
82Deformed tarsal bones (HP:0008119)1.83890857
83Intrahepatic cholestasis (HP:0001406)1.83262006
84Abnormality of sulfur amino acid metabolism (HP:0004339)1.83259537
85Overlapping toe (HP:0001845)1.82707638
86Abnormality of the calf musculature (HP:0001430)1.82579307
87Abnormality of the gallbladder (HP:0005264)1.81596640
88Hyperbilirubinemia (HP:0002904)1.81386236
89Abnormality of aspartate family amino acid metabolism (HP:0010899)1.81089969
90Type I transferrin isoform profile (HP:0003642)1.80053524
91Lipoatrophy (HP:0100578)1.79538862
92Degeneration of anterior horn cells (HP:0002398)1.78914536
93Abnormality of the anterior horn cell (HP:0006802)1.78914536
94Palpitations (HP:0001962)1.78797682
95Nausea (HP:0002018)1.75928400
96Bundle branch block (HP:0011710)1.75625813
97Ventricular tachycardia (HP:0004756)1.75233915
98Limb-girdle muscle atrophy (HP:0003797)1.74893489
99Abnormality of the calcaneus (HP:0008364)1.74720540
100Deep venous thrombosis (HP:0002625)1.74607633

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NEK14.28614430
2BUB13.91551287
3TTK3.04347900
4PBK2.99079269
5NME22.94517762
6EIF2AK12.87112511
7CDC72.82433094
8PDK22.79710248
9OBSCN2.43356297
10SRPK12.39163336
11SCYL22.29490756
12WEE12.17768532
13TTN2.16016075
14TSSK61.98870014
15VRK21.95301787
16MST1R1.92723537
17EIF2AK31.89163669
18CCNB11.84390881
19STK161.71832917
20NME11.60730629
21MAP3K121.57775523
22PAK41.48912101
23PLK41.42094241
24IRAK31.38250543
25LATS21.35432778
26BRSK21.33660115
27PLK11.32977713
28ARAF1.31411818
29BRSK11.28876320
30MET1.21605079
31RPS6KB21.20396819
32AURKB1.17661091
33BRAF1.17109161
34PHKG21.16202668
35PHKG11.16202668
36ICK1.14795865
37LIMK11.12573098
38CHEK21.09944750
39SMG11.08304324
40PLK31.07813219
41EEF2K1.05541131
42AURKA1.04202151
43MAP3K81.04143645
44NEK90.99878044
45NEK20.98022265
46KSR20.95762087
47CDK70.90990166
48VRK10.89067803
49MYLK0.88380191
50ATR0.87031883
51TESK10.86962877
52ZAK0.81722492
53ERBB40.81469496
54EPHA20.81263647
55CDK80.80268592
56CHEK10.79644362
57RAF10.79190344
58PIM20.74326206
59AKT20.73479617
60TAF10.71345339
61ILK0.65365170
62BCKDK0.63756297
63MKNK10.62086083
64CLK10.62080761
65CSNK2A20.59091851
66STK40.57025773
67ABL20.54841854
68CDK11A0.54427825
69EIF2AK20.53695644
70TAOK20.52303577
71PTK20.51930891
72CDK140.51243006
73KSR10.51231216
74DAPK30.50978775
75CDK40.50792113
76CDK150.50512845
77PAK10.50439415
78CSNK2A10.49870612
79MAPKAPK50.49802401
80ALK0.49760977
81CDK180.49104703
82MOS0.49084876
83CDK10.48981340
84ATM0.47955509
85CSNK1E0.46635295
86ERBB30.44158631
87CDK20.42090283
88PAK20.40274391
89MST40.40180648
90CDK60.40018841
91TRIB30.38586170
92CAMK2G0.38106646
93DMPK0.37801595
94PASK0.36182827
95TESK20.36052831
96CSNK1G30.33380028
97STK240.29990323
98MAP3K100.29086579
99DAPK10.28868797
100LMTK20.28568622

Predicted pathways (KEGG)

RankGene SetZ-score
1* Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.50866689
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.27397958
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.99423856
4DNA replication_Homo sapiens_hsa030302.94790169
5Proteasome_Homo sapiens_hsa030502.64359909
6Mismatch repair_Homo sapiens_hsa034302.52848464
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.45059238
8Biosynthesis of amino acids_Homo sapiens_hsa012302.42240701
9Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.40189419
10Ribosome_Homo sapiens_hsa030102.37674236
11* Carbon metabolism_Homo sapiens_hsa012002.32449281
12* Pyruvate metabolism_Homo sapiens_hsa006202.18800454
13Oxidative phosphorylation_Homo sapiens_hsa001901.90731183
14Parkinsons disease_Homo sapiens_hsa050121.90254741
15Arginine biosynthesis_Homo sapiens_hsa002201.88111281
16One carbon pool by folate_Homo sapiens_hsa006701.78904899
17Cysteine and methionine metabolism_Homo sapiens_hsa002701.75818299
18Pentose phosphate pathway_Homo sapiens_hsa000301.69072964
19Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.68986846
20Nucleotide excision repair_Homo sapiens_hsa034201.67313150
21Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.61463349
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.59878503
23Propanoate metabolism_Homo sapiens_hsa006401.50344541
24Base excision repair_Homo sapiens_hsa034101.49491271
25Cell cycle_Homo sapiens_hsa041101.47641984
26RNA transport_Homo sapiens_hsa030131.43841758
27Fatty acid elongation_Homo sapiens_hsa000621.41602403
28Sulfur relay system_Homo sapiens_hsa041221.39554259
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.38065256
30Vitamin B6 metabolism_Homo sapiens_hsa007501.37568662
31Phenylalanine metabolism_Homo sapiens_hsa003601.36717425
32Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.36664112
33Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.36642234
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.35515074
35Spliceosome_Homo sapiens_hsa030401.32813173
36Fatty acid degradation_Homo sapiens_hsa000711.25996402
37Huntingtons disease_Homo sapiens_hsa050161.23440017
38Arginine and proline metabolism_Homo sapiens_hsa003301.21158934
39Alzheimers disease_Homo sapiens_hsa050101.20881238
40Drug metabolism - other enzymes_Homo sapiens_hsa009831.20606600
41Pyrimidine metabolism_Homo sapiens_hsa002401.20511976
42Pentose and glucuronate interconversions_Homo sapiens_hsa000401.20327162
43Homologous recombination_Homo sapiens_hsa034401.20166531
44Fructose and mannose metabolism_Homo sapiens_hsa000511.17803460
45Cardiac muscle contraction_Homo sapiens_hsa042601.15891917
46Folate biosynthesis_Homo sapiens_hsa007901.12647468
47Sulfur metabolism_Homo sapiens_hsa009201.08867178
48Non-homologous end-joining_Homo sapiens_hsa034501.07537945
49Tyrosine metabolism_Homo sapiens_hsa003501.07413019
50Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.05763993
51Fatty acid metabolism_Homo sapiens_hsa012121.05194191
52Cyanoamino acid metabolism_Homo sapiens_hsa004601.04588168
53Protein export_Homo sapiens_hsa030601.04179820
54Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.00995172
55Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.00986487
56Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.99614071
57Primary bile acid biosynthesis_Homo sapiens_hsa001200.98133102
58Glutathione metabolism_Homo sapiens_hsa004800.96407820
59Fanconi anemia pathway_Homo sapiens_hsa034600.94303945
60Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.94018073
61RNA polymerase_Homo sapiens_hsa030200.93246371
62Galactose metabolism_Homo sapiens_hsa000520.89825409
63Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.86798155
64Steroid biosynthesis_Homo sapiens_hsa001000.84297751
65Butanoate metabolism_Homo sapiens_hsa006500.84007297
66Starch and sucrose metabolism_Homo sapiens_hsa005000.73585334
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.71290858
68Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.70014976
69* Metabolic pathways_Homo sapiens_hsa011000.69011615
70Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.66890527
71Peroxisome_Homo sapiens_hsa041460.65273855
72Purine metabolism_Homo sapiens_hsa002300.65136732
73Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.64424624
74Retinol metabolism_Homo sapiens_hsa008300.63299269
75mRNA surveillance pathway_Homo sapiens_hsa030150.62322079
76Tryptophan metabolism_Homo sapiens_hsa003800.61231523
77Oocyte meiosis_Homo sapiens_hsa041140.60895122
78RNA degradation_Homo sapiens_hsa030180.59575706
79Caffeine metabolism_Homo sapiens_hsa002320.58332462
80N-Glycan biosynthesis_Homo sapiens_hsa005100.57098734
81beta-Alanine metabolism_Homo sapiens_hsa004100.53102826
82Prion diseases_Homo sapiens_hsa050200.51851892
83Chemical carcinogenesis_Homo sapiens_hsa052040.51401078
84Steroid hormone biosynthesis_Homo sapiens_hsa001400.51208096
85Central carbon metabolism in cancer_Homo sapiens_hsa052300.48353319
86Basal transcription factors_Homo sapiens_hsa030220.44712592
87Selenocompound metabolism_Homo sapiens_hsa004500.42241308
88Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.41114272
89Complement and coagulation cascades_Homo sapiens_hsa046100.39518524
90Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.38846596
91PPAR signaling pathway_Homo sapiens_hsa033200.37516806
92Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36702108
93p53 signaling pathway_Homo sapiens_hsa041150.35343042
94Thyroid cancer_Homo sapiens_hsa052160.34999826
95Lysine degradation_Homo sapiens_hsa003100.32224001
96Vibrio cholerae infection_Homo sapiens_hsa051100.30342376
97Dilated cardiomyopathy_Homo sapiens_hsa054140.28295123
98Systemic lupus erythematosus_Homo sapiens_hsa053220.27653008
99Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.24557204
100Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.23873531

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