AKR7A2

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 belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1deoxyribonucleoside monophosphate metabolic process (GO:0009162)7.00312266
2pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.92361330
3pyrimidine deoxyribonucleotide metabolic process (GO:0009219)4.37754034
4GDP-mannose metabolic process (GO:0019673)4.20280235
5deoxyribose phosphate biosynthetic process (GO:0046385)4.17702518
62-deoxyribonucleotide biosynthetic process (GO:0009265)4.17702518
7nucleotide salvage (GO:0043173)4.15510454
8protein maturation by protein folding (GO:0022417)4.10659357
9pyrimidine nucleoside triphosphate metabolic process (GO:0009147)4.07414472
10pyrimidine nucleotide catabolic process (GO:0006244)4.01322490
11base-excision repair, AP site formation (GO:0006285)3.97475764
12pentose-phosphate shunt (GO:0006098)3.96074821
13deoxyribonucleotide catabolic process (GO:0009264)3.85646490
14pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.81911306
15viral transcription (GO:0019083)3.77407194
16guanosine-containing compound biosynthetic process (GO:1901070)3.76619748
17protein retention in ER lumen (GO:0006621)3.76352910
18deoxyribose phosphate catabolic process (GO:0046386)3.74599001
19GTP biosynthetic process (GO:0006183)3.73662136
20ribosomal small subunit assembly (GO:0000028)3.70302551
21proline biosynthetic process (GO:0006561)3.63362246
22UTP biosynthetic process (GO:0006228)3.61477326
23CTP biosynthetic process (GO:0006241)3.61358117
24CTP metabolic process (GO:0046036)3.61358117
25purine nucleotide salvage (GO:0032261)3.58780575
26pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)3.53241533
27pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)3.52128963
28translational termination (GO:0006415)3.51199667
29pyrimidine nucleoside monophosphate metabolic process (GO:0009129)3.51137212
30oxidative phosphorylation (GO:0006119)3.50367914
31COPI coating of Golgi vesicle (GO:0048205)3.48607044
32Golgi transport vesicle coating (GO:0048200)3.48607044
33negative regulation of release of cytochrome c from mitochondria (GO:0090201)3.46997769
34glucose catabolic process (GO:0006007)3.46421431
35pentose metabolic process (GO:0019321)3.45307405
36negative regulation of B cell apoptotic process (GO:0002903)3.44232221
37metallo-sulfur cluster assembly (GO:0031163)3.43736410
38iron-sulfur cluster assembly (GO:0016226)3.43736410
39UTP metabolic process (GO:0046051)3.42902562
40mitochondrial calcium ion transport (GO:0006851)3.41000356
41pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)3.39988327
42regulation of mitochondrial translation (GO:0070129)3.39888303
43galactose catabolic process (GO:0019388)3.39442338
44NADPH regeneration (GO:0006740)3.38808564
45DNA strand elongation involved in DNA replication (GO:0006271)3.37781207
46translational elongation (GO:0006414)3.32350965
47deoxyribonucleotide biosynthetic process (GO:0009263)3.31940976
48pyrimidine nucleoside salvage (GO:0043097)3.31827356
49pyrimidine-containing compound salvage (GO:0008655)3.31827356
50negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.30559869
51purine deoxyribonucleotide catabolic process (GO:0009155)3.27377302
52maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.26885399
53nucleobase-containing small molecule interconversion (GO:0015949)3.26378672
542-deoxyribonucleotide metabolic process (GO:0009394)3.26047463
55DNA strand elongation (GO:0022616)3.25727570
56telomere maintenance via semi-conservative replication (GO:0032201)3.25158229
57SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.24325783
58pyrimidine nucleoside biosynthetic process (GO:0046134)3.21835400
59RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.19706783
60tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.19706783
61ribosomal small subunit biogenesis (GO:0042274)3.19179764
62nucleoside salvage (GO:0043174)3.17254823
63protein localization to endoplasmic reticulum (GO:0070972)3.13512531
64cotranslational protein targeting to membrane (GO:0006613)3.13472346
65protein targeting to ER (GO:0045047)3.12568663
66deoxyribose phosphate metabolic process (GO:0019692)3.12499067
67erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.12284922
68L-phenylalanine metabolic process (GO:0006558)3.12284922
69NADH metabolic process (GO:0006734)3.11292049
70deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.11188584
71pyrimidine nucleotide biosynthetic process (GO:0006221)3.04779066
72UV protection (GO:0009650)3.00042931
73peptidyl-arginine omega-N-methylation (GO:0035247)2.99808347
74viral life cycle (GO:0019058)2.98096302
75establishment of protein localization to endoplasmic reticulum (GO:0072599)2.97541549
76DNA unwinding involved in DNA replication (GO:0006268)2.96691463
77deoxyribonucleotide metabolic process (GO:0009262)2.94496158
78pyrimidine nucleotide metabolic process (GO:0006220)2.92276430
79mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.90079546
80pyrimidine-containing compound biosynthetic process (GO:0072528)2.83878590
81cellular protein complex disassembly (GO:0043624)2.79880595
82cellular metabolic compound salvage (GO:0043094)2.79648372
83nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.79400861
84nucleoside diphosphate biosynthetic process (GO:0009133)2.78219342
85branched-chain amino acid catabolic process (GO:0009083)2.77614690
86fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.77260642
87energy coupled proton transport, down electrochemical gradient (GO:0015985)2.75968484
88ATP synthesis coupled proton transport (GO:0015986)2.75968484
89mitotic nuclear envelope reassembly (GO:0007084)2.74787495
90nuclear envelope reassembly (GO:0031468)2.74787495
91pyrimidine ribonucleoside biosynthetic process (GO:0046132)2.74487103
92base-excision repair (GO:0006284)2.71885330
93establishment of viral latency (GO:0019043)2.70776911
94prostanoid biosynthetic process (GO:0046457)2.69074983
95prostaglandin biosynthetic process (GO:0001516)2.69074983
96ubiquinone biosynthetic process (GO:0006744)2.68526916
97tricarboxylic acid metabolic process (GO:0072350)2.67983326
98heme biosynthetic process (GO:0006783)2.67880705
99respiratory electron transport chain (GO:0022904)2.67778258
100GMP metabolic process (GO:0046037)2.63376054

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.01113492
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.66776622
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.18136219
4E2F7_22180533_ChIP-Seq_HELA_Human3.08037367
5HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.87456583
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.76044633
7MYC_18555785_ChIP-Seq_MESCs_Mouse2.63082129
8MYC_18358816_ChIP-ChIP_MESCs_Mouse2.59303756
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.52015911
10VDR_21846776_ChIP-Seq_THP-1_Human2.20676792
11ZNF263_19887448_ChIP-Seq_K562_Human2.11593388
12E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.03667249
13XRN2_22483619_ChIP-Seq_HELA_Human2.01395849
14ELF1_17652178_ChIP-ChIP_JURKAT_Human1.99798739
15ETS1_20019798_ChIP-Seq_JURKAT_Human1.99282906
16MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.97938380
17THAP11_20581084_ChIP-Seq_MESCs_Mouse1.95650790
18TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.95026385
19LXR_22292898_ChIP-Seq_THP-1_Human1.93213496
20KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.92974087
21E2F1_18555785_ChIP-Seq_MESCs_Mouse1.87267742
22CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.87238773
23CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.87096320
24PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.86737142
25CREB1_15753290_ChIP-ChIP_HEK293T_Human1.85910867
26CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.83520351
27NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.81400896
28SRY_22984422_ChIP-ChIP_TESTIS_Rat1.80541491
29* GABP_19822575_ChIP-Seq_HepG2_Human1.75835536
30NELFA_20434984_ChIP-Seq_ESCs_Mouse1.74745876
31TET1_21451524_ChIP-Seq_MESCs_Mouse1.72403591
32DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.71108199
33SRF_21415370_ChIP-Seq_HL-1_Mouse1.70736628
34MYC_19030024_ChIP-ChIP_MESCs_Mouse1.68619088
35RARG_19884340_ChIP-ChIP_MEFs_Mouse1.64002233
36DCP1A_22483619_ChIP-Seq_HELA_Human1.63822438
37ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.63136841
38ZFX_18555785_ChIP-Seq_MESCs_Mouse1.62471080
39ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.61158538
40MYC_19079543_ChIP-ChIP_MESCs_Mouse1.59415214
41TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.57549869
42CTCF_18555785_ChIP-Seq_MESCs_Mouse1.54984546
43SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.50673369
44SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.50099289
45FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.49912277
46CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.48784720
47BCL6_27268052_Chip-Seq_Bcells_Human1.48419825
48ELF1_20517297_ChIP-Seq_JURKAT_Human1.47210242
49GABP_17652178_ChIP-ChIP_JURKAT_Human1.46187873
50P68_20966046_ChIP-Seq_HELA_Human1.45775582
51ELK3_25401928_ChIP-Seq_HUVEC_Human1.45658466
52CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.44649748
53CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.39842824
54BP1_19119308_ChIP-ChIP_Hs578T_Human1.37014334
55BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.34593149
56KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.34184226
57TTF2_22483619_ChIP-Seq_HELA_Human1.33726400
58CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.31153151
59YY1_21170310_ChIP-Seq_MESCs_Mouse1.29957193
60ERG_20887958_ChIP-Seq_HPC-7_Mouse1.27856237
61SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.27410318
62CIITA_25753668_ChIP-Seq_RAJI_Human1.27098877
63CTCF_26484167_Chip-Seq_Bcells_Mouse1.26935751
64CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.26810328
65ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.25915493
66BCOR_27268052_Chip-Seq_Bcells_Human1.23844953
67RACK7_27058665_Chip-Seq_MCF-7_Human1.22947519
68ESR1_15608294_ChIP-ChIP_MCF-7_Human1.22108285
69SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.21457134
70* SA1_27219007_Chip-Seq_ERYTHROID_Human1.20822204
71TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19350507
72* FOXP1_21924763_ChIP-Seq_HESCs_Human1.17198760
73FOXP3_21729870_ChIP-Seq_TREG_Human1.16636204
74EST1_17652178_ChIP-ChIP_JURKAT_Human1.16536064
75MYC_22102868_ChIP-Seq_BL_Human1.15901061
76THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.15600318
77RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.14541199
78SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.13242476
79KDM5A_27292631_Chip-Seq_BREAST_Human1.12266997
80YY1_22570637_ChIP-Seq_MALME-3M_Human1.11937924
81SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.11914728
82KLF4_18555785_ChIP-Seq_MESCs_Mouse1.09003901
83CTCF_21964334_Chip-Seq_Bcells_Human1.07818261
84NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.07619995
85PU.1_20513432_ChIP-Seq_Bcells_Mouse1.06225183
86TBX5_21415370_ChIP-Seq_HL-1_Mouse1.05615441
87PHF8_20622854_ChIP-Seq_HELA_Human1.05171500
88SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03846805
89HOXB4_20404135_ChIP-ChIP_EML_Mouse1.02819251
90E2F1_20622854_ChIP-Seq_HELA_Human1.02572759
91PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.01935363
92NANOG_18555785_ChIP-Seq_MESCs_Mouse1.01909013
93* KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.98527800
94POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.98492456
95VDR_23849224_ChIP-Seq_CD4+_Human0.98303652
96SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.98269092
97RXR_22158963_ChIP-Seq_LIVER_Mouse0.96961054
98SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.96636306
99GATA1_22383799_ChIP-Seq_G1ME_Mouse0.96398724
100MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.96118203

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis3.99446114
2MP0005058_abnormal_lysosome_morphology3.83683519
3MP0005451_abnormal_body_composition3.37129825
4MP0003186_abnormal_redox_activity3.14214798
5MP0005360_urolithiasis2.96630195
6MP0006036_abnormal_mitochondrial_physio2.74207951
7MP0002653_abnormal_ependyma_morphology2.73991665
8MP0009278_abnormal_bone_marrow2.63279366
9MP0004147_increased_porphyrin_level2.50602977
10MP0002139_abnormal_hepatobiliary_system2.45618240
11MP0009697_abnormal_copulation2.41279968
12MP0000465_gastrointestinal_hemorrhage2.38258890
13MP0009840_abnormal_foam_cell2.36858371
14MP0003191_abnormal_cellular_cholesterol2.07760521
15MP0001764_abnormal_homeostasis2.01271857
16MP0005464_abnormal_platelet_physiology1.99080270
17MP0000681_abnormal_thyroid_gland1.93018130
18MP0008260_abnormal_autophagy1.92645792
19MP0010030_abnormal_orbit_morphology1.90400698
20MP0008875_abnormal_xenobiotic_pharmacok1.88044416
21MP0002132_abnormal_respiratory_system1.84715894
22MP0009379_abnormal_foot_pigmentation1.73885172
23MP0008438_abnormal_cutaneous_collagen1.73849764
24MP0005397_hematopoietic_system_phenotyp1.68780807
25MP0001545_abnormal_hematopoietic_system1.68780807
26MP0008932_abnormal_embryonic_tissue1.63561985
27MP0001727_abnormal_embryo_implantation1.59137842
28MP0001881_abnormal_mammary_gland1.58151427
29MP0005584_abnormal_enzyme/coenzyme_acti1.57954117
30MP0000490_abnormal_crypts_of1.57782879
31MP0005332_abnormal_amino_acid1.56340520
32MP0010094_abnormal_chromosome_stability1.56116622
33MP0005645_abnormal_hypothalamus_physiol1.55226730
34MP0004858_abnormal_nervous_system1.52476557
35MP0005670_abnormal_white_adipose1.49920803
36MP0005365_abnormal_bile_salt1.44899562
37MP0000358_abnormal_cell_content/1.44889621
38MP0002822_catalepsy1.42714262
39MP0005165_increased_susceptibility_to1.41630750
40MP0005085_abnormal_gallbladder_physiolo1.38428701
41MP0003693_abnormal_embryo_hatching1.38272150
42MP0000751_myopathy1.37919606
43MP0000343_altered_response_to1.34121041
44MP0003315_abnormal_perineum_morphology1.33601219
45MP0001905_abnormal_dopamine_level1.32158563
46MP0008789_abnormal_olfactory_epithelium1.31949723
47MP0009643_abnormal_urine_homeostasis1.26693621
48MP0003111_abnormal_nucleus_morphology1.25675989
49MP0005083_abnormal_biliary_tract1.23713016
50MP0006035_abnormal_mitochondrial_morpho1.23134326
51MP0001529_abnormal_vocalization1.19573872
52MP0003075_altered_response_to1.19483078
53MP0005501_abnormal_skin_physiology1.18761932
54MP0000678_abnormal_parathyroid_gland1.18109989
55MP0005319_abnormal_enzyme/_coenzyme1.10911698
56MP0008007_abnormal_cellular_replicative1.09386948
57MP0005330_cardiomyopathy1.08836707
58MP0000858_altered_metastatic_potential1.07018291
59MP0000003_abnormal_adipose_tissue1.05236896
60MP0002877_abnormal_melanocyte_morpholog1.03067829
61MP0000609_abnormal_liver_physiology1.01654738
62MP0000747_muscle_weakness1.01340116
63MP0001542_abnormal_bone_strength1.00805188
64MP0002234_abnormal_pharynx_morphology0.99040277
65MP0005636_abnormal_mineral_homeostasis0.98928006
66MP0001661_extended_life_span0.95421175
67MP0002019_abnormal_tumor_incidence0.94977961
68MP0003718_maternal_effect0.93970401
69MP0003786_premature_aging0.91504913
70MP0008469_abnormal_protein_level0.89564132
71MP0002970_abnormal_white_adipose0.89230257
72MP0000598_abnormal_liver_morphology0.85794656
73MP0005666_abnormal_adipose_tissue0.85679480
74MP0009333_abnormal_splenocyte_physiolog0.85488284
75MP0000313_abnormal_cell_death0.85340071
76MP0009764_decreased_sensitivity_to0.84436633
77MP0001666_abnormal_nutrient_absorption0.84420598
78MP0000750_abnormal_muscle_regeneration0.83460986
79MP0008058_abnormal_DNA_repair0.82108105
80MP0002118_abnormal_lipid_homeostasis0.82077121
81MP0000013_abnormal_adipose_tissue0.81508024
82MP0004233_abnormal_muscle_weight0.80170166
83MP0010329_abnormal_lipoprotein_level0.80123318
84MP0004957_abnormal_blastocyst_morpholog0.79071134
85MP0003077_abnormal_cell_cycle0.78718766
86MP0004019_abnormal_vitamin_homeostasis0.77879250
87MP0001346_abnormal_lacrimal_gland0.77592397
88MP0002148_abnormal_hypersensitivity_rea0.76108479
89MP0005499_abnormal_olfactory_system0.75341894
90MP0005394_taste/olfaction_phenotype0.75341894
91MP0009763_increased_sensitivity_to0.73308850
92MP0005257_abnormal_intraocular_pressure0.73033995
93MP0005025_abnormal_response_to0.72705759
94MP0002249_abnormal_larynx_morphology0.72559250
95MP0004185_abnormal_adipocyte_glucose0.71904661
96MP0001664_abnormal_digestion0.69490423
97MP0000759_abnormal_skeletal_muscle0.65503552
98MP0002396_abnormal_hematopoietic_system0.63415935
99MP0009642_abnormal_blood_homeostasis0.63206653
100MP0009384_cardiac_valve_regurgitation0.62533410

Predicted human phenotypes

RankGene SetZ-score
1Ragged-red muscle fibers (HP:0003200)3.67762872
2Increased muscle lipid content (HP:0009058)3.59340373
3Abnormal mitochondria in muscle tissue (HP:0008316)3.56089820
4Hepatocellular necrosis (HP:0001404)3.49256845
5Decreased activity of mitochondrial respiratory chain (HP:0008972)3.46199201
6Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.46199201
7Increased intramyocellular lipid droplets (HP:0012240)3.41656851
8Hepatic necrosis (HP:0002605)3.31097787
9Dicarboxylic aciduria (HP:0003215)3.29480329
10Abnormality of dicarboxylic acid metabolism (HP:0010995)3.29480329
11Rhabdomyolysis (HP:0003201)3.22486073
12Cholecystitis (HP:0001082)3.18665313
13Abnormal gallbladder physiology (HP:0012438)3.18665313
14Reticulocytopenia (HP:0001896)3.07314448
15Opisthotonus (HP:0002179)3.05879063
16Vertebral compression fractures (HP:0002953)3.04732835
17Mitochondrial inheritance (HP:0001427)2.99701902
18Reduced antithrombin III activity (HP:0001976)2.95788348
19Increased serum pyruvate (HP:0003542)2.94383330
20Abnormality of glycolysis (HP:0004366)2.89976308
21Acute encephalopathy (HP:0006846)2.89773328
22Cerebral palsy (HP:0100021)2.88256626
23Acute necrotizing encephalopathy (HP:0006965)2.83735412
24Abnormality of liposaccharide metabolism (HP:0010968)2.80998028
25Abnormality of glycosphingolipid metabolism (HP:0004343)2.80998028
26Abnormality of glycolipid metabolism (HP:0010969)2.80998028
27Hyperammonemia (HP:0001987)2.79246526
28Hypertensive crisis (HP:0100735)2.77345112
29Myoglobinuria (HP:0002913)2.75181482
30Exercise intolerance (HP:0003546)2.74570440
31Microvesicular hepatic steatosis (HP:0001414)2.70236622
32Petechiae (HP:0000967)2.66888022
33Aplasia/Hypoplasia of the sacrum (HP:0008517)2.66736332
34Hyperglycinemia (HP:0002154)2.65356011
35Type I transferrin isoform profile (HP:0003642)2.64511684
36Increased CSF lactate (HP:0002490)2.57276546
37Abnormality of aromatic amino acid family metabolism (HP:0004338)2.57080902
38Lactic acidosis (HP:0003128)2.56481482
39Prolonged neonatal jaundice (HP:0006579)2.51756635
40Vacuolated lymphocytes (HP:0001922)2.47946802
41Cerebral edema (HP:0002181)2.44306359
42Abnormality of cells of the erythroid lineage (HP:0012130)2.42188161
43Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.42073056
44Abnormal number of erythroid precursors (HP:0012131)2.41570020
45Abnormal protein glycosylation (HP:0012346)2.37993292
46Abnormal glycosylation (HP:0012345)2.37993292
47Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.37993292
48Abnormal protein N-linked glycosylation (HP:0012347)2.37993292
49Achilles tendon contracture (HP:0001771)2.33554622
50Hepatosplenomegaly (HP:0001433)2.33205380
51Microretrognathia (HP:0000308)2.32854301
52Abnormality of fatty-acid metabolism (HP:0004359)2.30496056
53Abnormality of the Achilles tendon (HP:0005109)2.29728096
54Centrally nucleated skeletal muscle fibers (HP:0003687)2.29040340
55Myopathic facies (HP:0002058)2.24995980
56Abnormality of reticulocytes (HP:0004312)2.21914515
57Muscle stiffness (HP:0003552)2.21294154
58Increased serum lactate (HP:0002151)2.20603085
59Progressive neurologic deterioration (HP:0002344)2.18695383
60Progressive muscle weakness (HP:0003323)2.17449171
61Emotional lability (HP:0000712)2.14450272
62Obstructive lung disease (HP:0006536)2.13134764
63Chronic obstructive pulmonary disease (HP:0006510)2.13134764
64Spastic paraparesis (HP:0002313)2.12411168
65Purpura (HP:0000979)2.07116447
66Respiratory failure (HP:0002878)2.06519979
67Hypokinesia (HP:0002375)2.06273421
68Broad distal phalanx of finger (HP:0009836)1.99517568
69Progressive microcephaly (HP:0000253)1.98947666
70Hyperthyroidism (HP:0000836)1.97633804
713-Methylglutaconic aciduria (HP:0003535)1.96991226
72Lethargy (HP:0001254)1.96026520
73Abnormality of the umbilical cord (HP:0010881)1.95039928
74Lipid accumulation in hepatocytes (HP:0006561)1.94751823
75Dysostosis multiplex (HP:0000943)1.92400614
76Multiple enchondromatosis (HP:0005701)1.90869588
77Thoracic kyphosis (HP:0002942)1.90518606
78Exercise-induced myalgia (HP:0003738)1.90029433
79Macrocytic anemia (HP:0001972)1.88848332
80Renal Fanconi syndrome (HP:0001994)1.88526849
81Fasciculations (HP:0002380)1.88481162
82Delayed CNS myelination (HP:0002188)1.86834828
83Progressive macrocephaly (HP:0004481)1.86183261
84J-shaped sella turcica (HP:0002680)1.85612307
85Esophageal neoplasm (HP:0100751)1.85273377
86Neoplasm of head and neck (HP:0012288)1.85273377
87Rough bone trabeculation (HP:0100670)1.85209479
88Abnormality of glycine metabolism (HP:0010895)1.85199810
89Abnormality of serine family amino acid metabolism (HP:0010894)1.85199810
90Systemic lupus erythematosus (HP:0002725)1.84681325
91Seborrheic dermatitis (HP:0001051)1.82531798
92Reticulocytosis (HP:0001923)1.81461914
93Epiphyseal stippling (HP:0010655)1.80146753
94Testicular atrophy (HP:0000029)1.78426555
95Truncus arteriosus (HP:0001660)1.77904550
96Atelectasis (HP:0100750)1.77415490
97Brushfield spots (HP:0001088)1.75881982
98Abnormality of the tricuspid valve (HP:0001702)1.74486101
99Trismus (HP:0000211)1.73818920
100Abnormal pupillary function (HP:0007686)1.73333928

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.30137040
2NME24.04885295
3TESK23.86473752
4VRK23.69612171
5TESK13.45292547
6ERN13.18157902
7PIM22.96200913
8SCYL22.81399809
9MAP3K112.67091585
10KDR2.41042207
11ARAF2.39697129
12LIMK11.97186281
13PBK1.78951647
14TAOK21.73405253
15CDK191.72953502
16SMG11.62214151
17MAP2K31.56729836
18IRAK31.53272525
19ABL21.53078080
20EPHA21.49297480
21TRIB31.47732312
22TBK11.45720233
23FLT31.44959338
24DAPK11.40190480
25CSNK1G31.38374799
26MAP2K71.34330419
27CDC71.29806966
28CCNB11.28643937
29BUB11.27787444
30AURKA1.19642462
31MAP4K21.14252685
32LRRK21.11432747
33DYRK1B1.04343746
34CSNK1A1L1.03302633
35VRK11.01896467
36CDK81.00683354
37DAPK30.99098057
38CDK70.98472784
39STK160.93951777
40GRK60.86263297
41MAP3K120.86013904
42PAK40.84629955
43EPHB20.83537805
44NEK10.83347623
45MAP3K30.79780387
46RPS6KA40.79306423
47LMTK20.78724357
48MAP4K10.78593749
49CSNK1G10.77564344
50CSNK1G20.75264640
51ILK0.74100109
52RPS6KB20.73544749
53RPS6KA50.66565138
54AURKB0.65728498
55AKT20.64528714
56CDK140.64194293
57KIT0.63816411
58MAPKAPK30.62145263
59MAP3K60.61778583
60BRAF0.61506646
61CDK11A0.61015893
62ATR0.60679408
63SRPK10.59997969
64DYRK20.59716691
65CAMK2G0.59430966
66MAP3K80.58205657
67CHEK20.57361660
68MAP2K40.56486450
69MAP3K50.55396803
70CSF1R0.55313940
71MUSK0.54808605
72PAK10.54131597
73CDK150.51257617
74EIF2AK10.50131203
75TLK10.49802713
76MAPK110.49112655
77MOS0.45827146
78CDK90.45148385
79CDK180.45083710
80NME10.44979930
81PRPF4B0.44448065
82MYLK0.43999602
83MAP3K10.43062291
84CSNK2A20.41605450
85PKN20.40763035
86TYK20.40374129
87PLK10.39016964
88CSNK2A10.37503858
89RAF10.35137497
90SIK10.33509207
91JAK30.32472104
92MAP2K20.32137202
93CSNK1A10.28821809
94CDK40.27046526
95MST1R0.25755618
96MAP2K60.25669717
97RPS6KC10.24588823
98RPS6KL10.24588823
99IKBKB0.24472554
100PRKCI0.23465557

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.36912669
2Sulfur relay system_Homo sapiens_hsa041223.27181490
3Base excision repair_Homo sapiens_hsa034103.04104194
4Ribosome_Homo sapiens_hsa030102.96992119
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.91345141
6Pentose phosphate pathway_Homo sapiens_hsa000302.48921104
7Biosynthesis of amino acids_Homo sapiens_hsa012302.43778835
8Oxidative phosphorylation_Homo sapiens_hsa001902.33588092
9Proteasome_Homo sapiens_hsa030502.27522434
10Carbon metabolism_Homo sapiens_hsa012002.24537360
11Fatty acid elongation_Homo sapiens_hsa000622.14529075
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.14510558
13Parkinsons disease_Homo sapiens_hsa050122.10782272
14Galactose metabolism_Homo sapiens_hsa000522.09735639
15Pyrimidine metabolism_Homo sapiens_hsa002402.07664251
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.03336885
17Fructose and mannose metabolism_Homo sapiens_hsa000511.97989314
18Mismatch repair_Homo sapiens_hsa034301.94732004
19Glutathione metabolism_Homo sapiens_hsa004801.78300753
20Other glycan degradation_Homo sapiens_hsa005111.74144424
21Folate biosynthesis_Homo sapiens_hsa007901.67520452
22Phenylalanine metabolism_Homo sapiens_hsa003601.56366198
23Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.55076155
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.53825058
25Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.52728384
26Huntingtons disease_Homo sapiens_hsa050161.52181629
27Cyanoamino acid metabolism_Homo sapiens_hsa004601.51841557
28Drug metabolism - other enzymes_Homo sapiens_hsa009831.50221707
29Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.45762139
30Glycosaminoglycan degradation_Homo sapiens_hsa005311.45177875
31Peroxisome_Homo sapiens_hsa041461.44107513
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.38369686
33Pyruvate metabolism_Homo sapiens_hsa006201.37661762
34Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.36677623
35Tyrosine metabolism_Homo sapiens_hsa003501.31623372
36Sulfur metabolism_Homo sapiens_hsa009201.31564846
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.29999080
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.29973248
39Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.26323506
40RNA polymerase_Homo sapiens_hsa030201.25333181
41Alzheimers disease_Homo sapiens_hsa050101.22074479
42One carbon pool by folate_Homo sapiens_hsa006701.19127408
43Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.18209386
44Arginine biosynthesis_Homo sapiens_hsa002201.17515027
45Homologous recombination_Homo sapiens_hsa034401.15168484
46Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.14640924
47Nucleotide excision repair_Homo sapiens_hsa034201.13407741
48Arginine and proline metabolism_Homo sapiens_hsa003301.11448578
49Fatty acid degradation_Homo sapiens_hsa000711.06432787
50Metabolic pathways_Homo sapiens_hsa011000.98485147
51Fatty acid metabolism_Homo sapiens_hsa012120.95522892
52* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.95120848
53Vibrio cholerae infection_Homo sapiens_hsa051100.92060452
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.91183763
55Pentose and glucuronate interconversions_Homo sapiens_hsa000400.88446545
56Primary bile acid biosynthesis_Homo sapiens_hsa001200.88323795
57Purine metabolism_Homo sapiens_hsa002300.88213004
58Systemic lupus erythematosus_Homo sapiens_hsa053220.84586928
59N-Glycan biosynthesis_Homo sapiens_hsa005100.83766973
60Lysosome_Homo sapiens_hsa041420.82236805
61Chemical carcinogenesis_Homo sapiens_hsa052040.74703913
62Butanoate metabolism_Homo sapiens_hsa006500.72846037
63Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.71404514
64Steroid hormone biosynthesis_Homo sapiens_hsa001400.70662229
65Starch and sucrose metabolism_Homo sapiens_hsa005000.68477261
66Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.67773080
67Propanoate metabolism_Homo sapiens_hsa006400.66722171
68Spliceosome_Homo sapiens_hsa030400.65876356
69Fanconi anemia pathway_Homo sapiens_hsa034600.62767412
70Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.62596757
71Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.60329911
72Steroid biosynthesis_Homo sapiens_hsa001000.57189853
73Caffeine metabolism_Homo sapiens_hsa002320.56252122
74Vitamin B6 metabolism_Homo sapiens_hsa007500.54806845
75Cardiac muscle contraction_Homo sapiens_hsa042600.51191378
76beta-Alanine metabolism_Homo sapiens_hsa004100.50291015
77Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.50079498
78Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.49578198
79Tryptophan metabolism_Homo sapiens_hsa003800.45863871
80Fat digestion and absorption_Homo sapiens_hsa049750.45487350
81Renin-angiotensin system_Homo sapiens_hsa046140.45098120
82Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.44571237
83Arachidonic acid metabolism_Homo sapiens_hsa005900.41036614
84Shigellosis_Homo sapiens_hsa051310.39397129
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.39198619
86Asthma_Homo sapiens_hsa053100.37766788
87Alcoholism_Homo sapiens_hsa050340.33177521
88Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.32614851
89Retinol metabolism_Homo sapiens_hsa008300.32392687
90Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.31172842
91Bladder cancer_Homo sapiens_hsa052190.28078560
92Collecting duct acid secretion_Homo sapiens_hsa049660.27043467
93Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.25372060
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25318630
95PPAR signaling pathway_Homo sapiens_hsa033200.24173917
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.23530540
97Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.23370691
98Intestinal immune network for IgA production_Homo sapiens_hsa046720.22621198
99Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.22418900
100Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.19648427

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