GAGE12E

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1blastocyst development (GO:0001824)7.09699293
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.58533069
3energy coupled proton transport, down electrochemical gradient (GO:0015985)6.57747052
4ATP synthesis coupled proton transport (GO:0015986)6.57747052
5oxidative phosphorylation (GO:0006119)6.18653300
6proteasome assembly (GO:0043248)6.18167830
7cornea development in camera-type eye (GO:0061303)6.10774998
8regulation of gene expression by genetic imprinting (GO:0006349)5.84732827
9maturation of SSU-rRNA (GO:0030490)5.82442422
10rRNA modification (GO:0000154)5.47919713
11ribosomal small subunit biogenesis (GO:0042274)5.45300417
12diterpenoid biosynthetic process (GO:0016102)5.41920578
13positive regulation of odontogenesis (GO:0042482)4.98745213
14terpenoid biosynthetic process (GO:0016114)4.97343527
15regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.83455953
16respiratory electron transport chain (GO:0022904)4.83295830
17nephron tubule formation (GO:0072079)4.83214913
18omega-hydroxylase P450 pathway (GO:0097267)4.78450773
19ribosomal large subunit biogenesis (GO:0042273)4.77821006
20electron transport chain (GO:0022900)4.73636335
21regulation of cellular respiration (GO:0043457)4.73580369
22chaperone-mediated protein transport (GO:0072321)4.69791217
23rRNA methylation (GO:0031167)4.64308621
24transcription from mitochondrial promoter (GO:0006390)4.48949403
25mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.45068739
26formation of translation preinitiation complex (GO:0001731)4.44652838
27ATP biosynthetic process (GO:0006754)4.29627914
28viral transcription (GO:0019083)4.16991584
29cytochrome complex assembly (GO:0017004)4.15425157
30aerobic respiration (GO:0009060)4.11962946
31respiratory chain complex IV assembly (GO:0008535)4.11688482
32hepatocyte differentiation (GO:0070365)4.07909858
33phenylpropanoid metabolic process (GO:0009698)4.02710541
34translational termination (GO:0006415)4.00550274
35genetic imprinting (GO:0071514)3.97324269
36myeloid cell homeostasis (GO:0002262)3.91835599
37translation (GO:0006412)3.91542894
38translational initiation (GO:0006413)3.91519980
39protein targeting to mitochondrion (GO:0006626)3.89156265
40peptidyl-histidine modification (GO:0018202)3.87638888
41protein-cofactor linkage (GO:0018065)3.87515023
42mitochondrial RNA metabolic process (GO:0000959)3.81416385
43ribonucleoprotein complex disassembly (GO:0032988)3.76609981
44flavonoid metabolic process (GO:0009812)3.75953865
45purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.75120443
46SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.74644123
47translational elongation (GO:0006414)3.74540199
48purine nucleoside triphosphate biosynthetic process (GO:0009145)3.73115728
49ribonucleoprotein complex biogenesis (GO:0022613)3.71402948
50cotranslational protein targeting to membrane (GO:0006613)3.66564141
51protein targeting to ER (GO:0045047)3.60477115
52establishment of protein localization to mitochondrion (GO:0072655)3.58523988
53epoxygenase P450 pathway (GO:0019373)3.58145564
54maturation of 5.8S rRNA (GO:0000460)3.57781252
55N-terminal protein amino acid acetylation (GO:0006474)3.56301500
56protein localization to endoplasmic reticulum (GO:0070972)3.53145462
57protein localization to mitochondrion (GO:0070585)3.51603541
58xenobiotic catabolic process (GO:0042178)3.50375194
59regulation of mitochondrial translation (GO:0070129)3.49547473
60L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.46748533
61rRNA processing (GO:0006364)3.45806206
62hydrogen peroxide biosynthetic process (GO:0050665)3.44659496
63establishment of protein localization to endoplasmic reticulum (GO:0072599)3.42472192
64hydrogen ion transmembrane transport (GO:1902600)3.42383976
65protein complex biogenesis (GO:0070271)3.41579065
66ribonucleoside triphosphate biosynthetic process (GO:0009201)3.40483012
67histone exchange (GO:0043486)3.39286889
68establishment of protein localization to mitochondrial membrane (GO:0090151)3.37521639
69pseudouridine synthesis (GO:0001522)3.37424942
70male meiosis I (GO:0007141)3.36569695
71cellular component biogenesis (GO:0044085)3.36543646
72CENP-A containing nucleosome assembly (GO:0034080)3.35981242
73mitochondrial respiratory chain complex assembly (GO:0033108)3.35665497
74mitochondrial transport (GO:0006839)3.32551453
75protein K6-linked ubiquitination (GO:0085020)3.32136445
76cellular respiration (GO:0045333)3.30021913
77removal of superoxide radicals (GO:0019430)3.29253640
78cellular response to superoxide (GO:0071451)3.29253640
79cellular response to oxygen radical (GO:0071450)3.29253640
80rRNA metabolic process (GO:0016072)3.29068466
81nucleoside triphosphate biosynthetic process (GO:0009142)3.27772375
82DNA replication checkpoint (GO:0000076)3.27659220
83DNA unwinding involved in DNA replication (GO:0006268)3.26532981
84resolution of meiotic recombination intermediates (GO:0000712)3.24522459
85nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.20623050
86meiosis I (GO:0007127)3.19907976
87purine nucleoside monophosphate biosynthetic process (GO:0009127)3.18567964
88purine ribonucleoside monophosphate biosynthetic process (GO:0009168)3.18567964
89positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.17679122
90regulation of meiosis I (GO:0060631)3.17416727
91negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.15373282
92transcription elongation from RNA polymerase III promoter (GO:0006385)3.14177270
93termination of RNA polymerase III transcription (GO:0006386)3.14177270
94ribosome assembly (GO:0042255)3.13233237
95chromatin remodeling at centromere (GO:0031055)3.12584439
96vitamin D metabolic process (GO:0042359)3.12515326
97proton transport (GO:0015992)3.09135492
98synaptonemal complex assembly (GO:0007130)3.08346217
99ventricular cardiac muscle cell development (GO:0055015)3.05800263
100reactive oxygen species biosynthetic process (GO:1903409)3.04427686

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.80339214
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.67329439
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.23641309
4E2F7_22180533_ChIP-Seq_HELA_Human4.04401442
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.87779328
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.82497471
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.80902888
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.69954743
9ETS1_20019798_ChIP-Seq_JURKAT_Human3.42989655
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.38225415
11E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.32956367
12MYC_18358816_ChIP-ChIP_MESCs_Mouse3.23317052
13SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.06899609
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.91606161
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.91242192
16MYC_19079543_ChIP-ChIP_MESCs_Mouse2.86743132
17MYC_19030024_ChIP-ChIP_MESCs_Mouse2.81613733
18DCP1A_22483619_ChIP-Seq_HELA_Human2.64179025
19ELF1_17652178_ChIP-ChIP_JURKAT_Human2.45570327
20SALL1_21062744_ChIP-ChIP_HESCs_Human2.43622808
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.37390973
22E2F1_18555785_ChIP-Seq_MESCs_Mouse2.28460995
23VDR_23849224_ChIP-Seq_CD4+_Human2.25923537
24THAP11_20581084_ChIP-Seq_MESCs_Mouse2.25383769
25FOXP3_21729870_ChIP-Seq_TREG_Human2.16851474
26TTF2_22483619_ChIP-Seq_HELA_Human2.14031184
27SRF_21415370_ChIP-Seq_HL-1_Mouse2.06970533
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.06787922
29XRN2_22483619_ChIP-Seq_HELA_Human2.03260291
30CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.99031628
31E2F4_17652178_ChIP-ChIP_JURKAT_Human1.90142856
32GABP_19822575_ChIP-Seq_HepG2_Human1.84447219
33NELFA_20434984_ChIP-Seq_ESCs_Mouse1.84043206
34PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.83733282
35HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.83223102
36FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.81529646
37YY1_21170310_ChIP-Seq_MESCs_Mouse1.81411586
38CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.81204785
39ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.73903379
40TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.69998147
41PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.67403659
42POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.67236551
43ELK1_19687146_ChIP-ChIP_HELA_Human1.64035863
44CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.63901104
45MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.56766303
46FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.53479873
47BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.46610201
48LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46568221
49POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.42806188
50ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.42286839
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.39337787
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.38265160
53CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.38111503
54HOXB4_20404135_ChIP-ChIP_EML_Mouse1.38015227
55PADI4_21655091_ChIP-ChIP_MCF-7_Human1.37081126
56NANOG_18555785_ChIP-Seq_MESCs_Mouse1.35319263
57ZNF263_19887448_ChIP-Seq_K562_Human1.35121390
58MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.27376704
59RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27128973
60MYCN_18555785_ChIP-Seq_MESCs_Mouse1.23161834
61FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.21478411
62AR_21909140_ChIP-Seq_LNCAP_Human1.19496889
63NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.17385557
64KDM5A_27292631_Chip-Seq_BREAST_Human1.15183405
65NOTCH1_21737748_ChIP-Seq_TLL_Human1.12625097
66TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.10212305
67ERG_20887958_ChIP-Seq_HPC-7_Mouse1.08436077
68E2F1_21310950_ChIP-Seq_MCF-7_Human1.06028721
69CTCF_18555785_ChIP-Seq_MESCs_Mouse1.04914015
70KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.04109785
71NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.03572834
72CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.02368368
73YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01591438
74FOXM1_23109430_ChIP-Seq_U2OS_Human0.99881770
75STAT3_1855785_ChIP-Seq_MESCs_Mouse0.99423679
76TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.97363509
77ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.96385574
78ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.91225420
79TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.90740650
80E2F1_20622854_ChIP-Seq_HELA_Human0.88860124
81TFEB_21752829_ChIP-Seq_HELA_Human0.88564320
82BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.88456375
83PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.87947726
84SOX2_18692474_ChIP-Seq_MEFs_Mouse0.87685028
85TBX5_21415370_ChIP-Seq_HL-1_Mouse0.86985021
86HTT_18923047_ChIP-ChIP_STHdh_Human0.86472520
87MYC_18940864_ChIP-ChIP_HL60_Human0.86058191
88NANOG_18692474_ChIP-Seq_MEFs_Mouse0.86033637
89GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85238020
90E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.84676418
91SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.84621015
92SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.82548389
93SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.82378091
94OCT4_18692474_ChIP-Seq_MEFs_Mouse0.82048788
95GATA1_26923725_Chip-Seq_HPCs_Mouse0.81522710
96KLF4_18555785_ChIP-Seq_MESCs_Mouse0.80390809
97ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.80068392
98CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.77360171
99POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.76984723
100CTCF_26484167_Chip-Seq_Bcells_Mouse0.75285284

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis4.99478288
2MP0008875_abnormal_xenobiotic_pharmacok4.18722585
3MP0008872_abnormal_physiological_respon3.64598084
4MP0010030_abnormal_orbit_morphology3.61086331
5MP0004957_abnormal_blastocyst_morpholog3.55678313
6MP0008260_abnormal_autophagy3.55582844
7MP0003186_abnormal_redox_activity3.35703505
8MP0005670_abnormal_white_adipose3.21233677
9MP0006036_abnormal_mitochondrial_physio3.15452411
10MP0008057_abnormal_DNA_replication2.95029588
11MP0003786_premature_aging2.29377856
12MP0005636_abnormal_mineral_homeostasis2.29124593
13MP0010094_abnormal_chromosome_stability2.28525101
14MP0008058_abnormal_DNA_repair2.23133570
15MP0003718_maternal_effect2.18090596
16MP0003077_abnormal_cell_cycle2.00399928
17MP0003646_muscle_fatigue1.87390136
18MP0001764_abnormal_homeostasis1.86177652
19MP0009697_abnormal_copulation1.75219874
20MP0002139_abnormal_hepatobiliary_system1.75202774
21MP0008995_early_reproductive_senescence1.74353985
22MP0003693_abnormal_embryo_hatching1.68433085
23MP0002210_abnormal_sex_determination1.66980838
24MP0005319_abnormal_enzyme/_coenzyme1.65003288
25MP0006035_abnormal_mitochondrial_morpho1.63772908
26MP0005058_abnormal_lysosome_morphology1.59982605
27MP0010234_abnormal_vibrissa_follicle1.58740073
28MP0009333_abnormal_splenocyte_physiolog1.55976632
29MP0003567_abnormal_fetal_cardiomyocyte1.54777502
30MP0003111_abnormal_nucleus_morphology1.53551552
31MP0001929_abnormal_gametogenesis1.52783704
32MP0005085_abnormal_gallbladder_physiolo1.49352574
33MP0002735_abnormal_chemical_nociception1.48233680
34MP0000358_abnormal_cell_content/1.47458806
35MP0005360_urolithiasis1.40908361
36MP0005410_abnormal_fertilization1.40354992
37MP0005332_abnormal_amino_acid1.38237834
38MP0009379_abnormal_foot_pigmentation1.38220397
39MP0005451_abnormal_body_composition1.33168288
40MP0003698_abnormal_male_reproductive1.32304969
41MP0004215_abnormal_myocardial_fiber1.27834805
42MP0005389_reproductive_system_phenotype1.27158197
43MP0006138_congestive_heart_failure1.26729460
44MP0002160_abnormal_reproductive_system1.26173431
45MP0001661_extended_life_span1.23749090
46MP0008789_abnormal_olfactory_epithelium1.23161167
47MP0009764_decreased_sensitivity_to1.20498721
48MP0000490_abnormal_crypts_of1.19688987
49MP0001145_abnormal_male_reproductive1.18620356
50MP0000015_abnormal_ear_pigmentation1.18309324
51MP0002796_impaired_skin_barrier1.17648012
52MP0002837_dystrophic_cardiac_calcinosis1.14919361
53MP0001919_abnormal_reproductive_system1.14774273
54MP0008932_abnormal_embryonic_tissue1.14356026
55MP0006292_abnormal_olfactory_placode1.14131490
56MP0000653_abnormal_sex_gland1.13544824
57MP0001730_embryonic_growth_arrest1.09056764
58MP0008874_decreased_physiological_sensi1.05968641
59MP0000372_irregular_coat_pigmentation1.00550916
60MP0006072_abnormal_retinal_apoptosis0.98870119
61MP0000350_abnormal_cell_proliferation0.97891057
62MP0005266_abnormal_metabolism0.95988835
63MP0001346_abnormal_lacrimal_gland0.95058925
64MP0001756_abnormal_urination0.94275007
65MP0005171_absent_coat_pigmentation0.92156792
66MP0001697_abnormal_embryo_size0.90788087
67MP0002080_prenatal_lethality0.90697959
68MP0008873_increased_physiological_sensi0.88300799
69MP0001986_abnormal_taste_sensitivity0.87217497
70MP0003699_abnormal_female_reproductive0.85053904
71MP0005365_abnormal_bile_salt0.83849957
72MP0000313_abnormal_cell_death0.83351202
73MP0002909_abnormal_adrenal_gland0.82745979
74MP0005380_embryogenesis_phenotype0.81365131
75MP0001672_abnormal_embryogenesis/_devel0.81365131
76MP0003878_abnormal_ear_physiology0.78180597
77MP0005377_hearing/vestibular/ear_phenot0.78180597
78MP0005330_cardiomyopathy0.76415418
79MP0003890_abnormal_embryonic-extraembry0.75518136
80MP0005501_abnormal_skin_physiology0.75378554
81MP0005257_abnormal_intraocular_pressure0.75276283
82MP0002161_abnormal_fertility/fecundity0.74719956
83MP0005165_increased_susceptibility_to0.74029947
84MP0005408_hypopigmentation0.72087760
85MP0002938_white_spotting0.71415920
86MP0002132_abnormal_respiratory_system0.71141254
87MP0001905_abnormal_dopamine_level0.70435622
88MP0000639_abnormal_adrenal_gland0.67763300
89MP0005499_abnormal_olfactory_system0.65644453
90MP0005394_taste/olfaction_phenotype0.65644453
91MP0009765_abnormal_xenobiotic_induced0.64858157
92MP0005376_homeostasis/metabolism_phenot0.62330460
93MP0001529_abnormal_vocalization0.62225548
94MP0003984_embryonic_growth_retardation0.60723686
95MP0002095_abnormal_skin_pigmentation0.60132566
96MP0002088_abnormal_embryonic_growth/wei0.60113125
97MP0005551_abnormal_eye_electrophysiolog0.59513928
98MP0003137_abnormal_impulse_conducting0.55431772
99MP0009046_muscle_twitch0.51561642
100MP0000647_abnormal_sebaceous_gland0.49881855

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of alanine metabolism (HP:0010916)6.92064982
2Hyperalaninemia (HP:0003348)6.92064982
3Abnormality of pyruvate family amino acid metabolism (HP:0010915)6.92064982
4Reticulocytopenia (HP:0001896)5.74535821
5Acute necrotizing encephalopathy (HP:0006965)5.30702527
6Abnormal mitochondria in muscle tissue (HP:0008316)4.81337444
7Increased CSF lactate (HP:0002490)4.64184162
8Acute encephalopathy (HP:0006846)4.43333203
9Cerebral hypomyelination (HP:0006808)4.41845055
10Progressive macrocephaly (HP:0004481)4.36468290
11Mitochondrial inheritance (HP:0001427)4.27103239
12Respiratory difficulties (HP:0002880)4.16666760
133-Methylglutaconic aciduria (HP:0003535)3.91160100
14Increased serum lactate (HP:0002151)3.70337251
15Increased hepatocellular lipid droplets (HP:0006565)3.59404027
16Cerebral edema (HP:0002181)3.57058225
17Lipid accumulation in hepatocytes (HP:0006561)3.40514795
18Lactic acidosis (HP:0003128)3.40176799
19Chromosomal breakage induced by crosslinking agents (HP:0003221)3.32704033
20Macrocytic anemia (HP:0001972)3.26915200
21Leukodystrophy (HP:0002415)3.21257502
22Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.17431877
23Hepatocellular necrosis (HP:0001404)3.15420361
24CNS hypomyelination (HP:0003429)3.12838996
25Birth length less than 3rd percentile (HP:0003561)3.12082793
26Increased intramyocellular lipid droplets (HP:0012240)3.04027232
27Premature ovarian failure (HP:0008209)2.95340820
28CNS demyelination (HP:0007305)2.92698619
29Abnormality of serum amino acid levels (HP:0003112)2.92041246
30Renal Fanconi syndrome (HP:0001994)2.85607307
31Limb dystonia (HP:0002451)2.78176563
32Chromsome breakage (HP:0040012)2.78084127
33Aplasia/Hypoplasia of the fovea (HP:0008060)2.76938553
34Hypoplasia of the fovea (HP:0007750)2.76938553
35Microvesicular hepatic steatosis (HP:0001414)2.75977499
36Pallor (HP:0000980)2.69788694
37Dysphonia (HP:0001618)2.67744079
38Exercise intolerance (HP:0003546)2.66138261
39Lethargy (HP:0001254)2.64827071
40Hepatic necrosis (HP:0002605)2.62505479
41Duplicated collecting system (HP:0000081)2.62436365
42Spastic paraparesis (HP:0002313)2.62288197
43Increased muscle lipid content (HP:0009058)2.60923554
44Abnormality of pyrimidine metabolism (HP:0004353)2.60868067
45Respiratory failure (HP:0002878)2.59790903
46Progressive muscle weakness (HP:0003323)2.53694901
47Abnormality of the fovea (HP:0000493)2.51903192
48Hypomagnesemia (HP:0002917)2.50692202
49X-linked dominant inheritance (HP:0001423)2.47072290
50Pendular nystagmus (HP:0012043)2.46695740
51Aplasia/hypoplasia of the uterus (HP:0008684)2.44656565
52Abnormality of magnesium homeostasis (HP:0004921)2.43140366
53Fused cervical vertebrae (HP:0002949)2.38974010
54Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.38050800
55Decreased activity of mitochondrial respiratory chain (HP:0008972)2.38050800
56Spontaneous abortion (HP:0005268)2.36985011
57Poor speech (HP:0002465)2.36848523
58Abnormality of the renal collecting system (HP:0004742)2.35671910
59Conjugated hyperbilirubinemia (HP:0002908)2.31595112
60Abnormal hemoglobin (HP:0011902)2.31429001
61Optic disc pallor (HP:0000543)2.30502118
62Abnormality of DNA repair (HP:0003254)2.28529302
63Hyperglycinemia (HP:0002154)2.28172704
64Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.27380670
65Redundant skin (HP:0001582)2.20944785
66Delusions (HP:0000746)2.20758851
67Breast hypoplasia (HP:0003187)2.17354277
68Testicular atrophy (HP:0000029)2.16928384
69Abnormality of the ileum (HP:0001549)2.15727712
70Aplasia/Hypoplasia of the sacrum (HP:0008517)2.13578124
71Meckel diverticulum (HP:0002245)2.13516074
72Azoospermia (HP:0000027)2.11765367
73Microretrognathia (HP:0000308)2.11287324
74Abnormal spermatogenesis (HP:0008669)2.11162248
75Exertional dyspnea (HP:0002875)2.10556612
76Methylmalonic aciduria (HP:0012120)2.09571810
77Abnormality of cells of the erythroid lineage (HP:0012130)2.09512157
78Hypoplasia of the uterus (HP:0000013)2.08922341
79Secondary amenorrhea (HP:0000869)2.07910346
80Septate vagina (HP:0001153)2.07908751
81Choreoathetosis (HP:0001266)2.06764541
82Sensory axonal neuropathy (HP:0003390)2.05320464
83Abnormality of lateral ventricle (HP:0030047)2.03354986
84Hypergonadotropic hypogonadism (HP:0000815)2.02158166
85Neuroendocrine neoplasm (HP:0100634)2.01655763
86Abnormality of the preputium (HP:0100587)2.01554119
87Ureteral duplication (HP:0000073)1.97685415
88Paralysis (HP:0003470)1.96566553
89Aplasia/Hypoplasia of the macula (HP:0008059)1.93519640
90J-shaped sella turcica (HP:0002680)1.89656779
91Sparse eyelashes (HP:0000653)1.88133313
92Unsteady gait (HP:0002317)1.84043965
93Abnormality of reticulocytes (HP:0004312)1.80168684
94Aplasia/Hypoplasia affecting the retina (HP:0008061)1.79672365
95Conjunctival hamartoma (HP:0100780)1.78789828
96Cleft eyelid (HP:0000625)1.76992431
97Absent thumb (HP:0009777)1.76737338
98Blindness (HP:0000618)1.76610747
99Pheochromocytoma (HP:0002666)1.76361340
100Aplasia/Hypoplasia of the uvula (HP:0010293)1.76214542

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK27.32326368
2NME26.56550396
3PBK6.55959555
4NEK13.81759390
5EIF2AK13.65016002
6MST43.21583557
7STK163.04083149
8VRK22.60082690
9TLK12.55210448
10WNK42.48583275
11EIF2AK32.37915970
12STK392.21698936
13OXSR12.04939923
14NUAK11.64147900
15SRPK11.60520083
16MAP3K121.39406448
17STK41.27533963
18BUB11.19175396
19PLK31.10233310
20NEK21.06215740
21BRSK11.02764358
22PINK11.02299132
23ILK0.83063790
24LMTK20.79826708
25ABL20.79610409
26EIF2AK20.78882929
27PHKG10.76093869
28PHKG20.76093869
29MKNK10.74774447
30CHEK20.73241861
31CCNB10.71709280
32RPS6KB20.68864015
33MKNK20.68392923
34SCYL20.67919814
35BCKDK0.62657916
36CDK190.60268965
37AURKA0.58206976
38EEF2K0.57897380
39CSNK1G30.56166885
40PLK10.55718612
41PRKCI0.54389509
42TRIM280.54248252
43CDK70.54127867
44AURKB0.52606288
45BRSK20.48709935
46CSF1R0.48195224
47DAPK10.48094148
48TSSK60.47673386
49JAK30.47062176
50VRK10.46564594
51ZAK0.46286780
52MARK30.45257732
53CSNK1G20.43218579
54CSNK2A10.42760925
55WEE10.42235247
56BMPR20.41679752
57BMX0.41583638
58DAPK30.40037744
59CHEK10.39862044
60DMPK0.39656812
61CSNK1A1L0.39264101
62ATR0.38011280
63MAPKAPK30.37573185
64TTK0.37431288
65CSNK1E0.36428429
66CSNK2A20.36220171
67GRK10.36080665
68PIK3CG0.34857979
69CSNK1G10.33686093
70DYRK20.33055627
71NME10.33008634
72GRK50.31742795
73ADRBK20.31651475
74PAK10.31554079
75MYLK0.27927796
76MAP3K10.27508406
77CDC70.27184648
78MUSK0.25359660
79PRKG20.24630975
80PKN10.24324574
81PDPK10.23903789
82GRK60.21318386
83NEK60.20687134
84CDK20.20220186
85MAPK40.19924971
86STK100.19540564
87MAP3K50.19344290
88FGR0.19291982
89CDK10.19208049
90STK30.18617937
91PRKCA0.18448997
92TRPM70.17897979
93MST1R0.17541377
94PRKCG0.17300389
95INSRR0.15915748
96CSNK1A10.15320999
97TAF10.15153607
98AKT20.14855065
99MAP4K20.13806253
100PRKACB0.11980918

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.04570199
2Oxidative phosphorylation_Homo sapiens_hsa001904.48396392
3Parkinsons disease_Homo sapiens_hsa050124.09450449
4Proteasome_Homo sapiens_hsa030503.36407619
5Huntingtons disease_Homo sapiens_hsa050163.14137702
6Homologous recombination_Homo sapiens_hsa034402.96151818
7DNA replication_Homo sapiens_hsa030302.81387515
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.70205225
9Alzheimers disease_Homo sapiens_hsa050102.67840644
10Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.50800435
11Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.31182413
12Cardiac muscle contraction_Homo sapiens_hsa042602.22068174
13RNA polymerase_Homo sapiens_hsa030202.14051611
14Basal transcription factors_Homo sapiens_hsa030222.10435541
15Mismatch repair_Homo sapiens_hsa034302.08016070
16Fanconi anemia pathway_Homo sapiens_hsa034602.04020395
17Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.93917936
18Protein export_Homo sapiens_hsa030601.92497901
19Pyruvate metabolism_Homo sapiens_hsa006201.82423315
20Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.80730371
21RNA transport_Homo sapiens_hsa030131.69759090
22Spliceosome_Homo sapiens_hsa030401.68898742
23Regulation of autophagy_Homo sapiens_hsa041401.51818763
24Nucleotide excision repair_Homo sapiens_hsa034201.51756868
25Pyrimidine metabolism_Homo sapiens_hsa002401.45772122
26Selenocompound metabolism_Homo sapiens_hsa004501.44945742
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.36448888
28One carbon pool by folate_Homo sapiens_hsa006701.28464427
29RNA degradation_Homo sapiens_hsa030181.27832799
30Tryptophan metabolism_Homo sapiens_hsa003801.25150201
31Non-homologous end-joining_Homo sapiens_hsa034501.23827297
32Cysteine and methionine metabolism_Homo sapiens_hsa002701.17325622
33Base excision repair_Homo sapiens_hsa034101.16433231
34Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.14712563
35Carbon metabolism_Homo sapiens_hsa012001.09491636
36Sulfur metabolism_Homo sapiens_hsa009201.06833620
37Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.06081691
38Purine metabolism_Homo sapiens_hsa002301.03500582
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.99730393
40Sulfur relay system_Homo sapiens_hsa041220.92737799
41Pentose phosphate pathway_Homo sapiens_hsa000300.89515995
42Chemical carcinogenesis_Homo sapiens_hsa052040.89256701
43Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.84329754
44Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.83388604
45Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.82783796
46Metabolic pathways_Homo sapiens_hsa011000.81885590
47Retinol metabolism_Homo sapiens_hsa008300.79026933
48Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.78353752
49Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.77719975
50Folate biosynthesis_Homo sapiens_hsa007900.77664995
51Steroid hormone biosynthesis_Homo sapiens_hsa001400.74826837
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.69652701
53Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.68535907
54Fatty acid elongation_Homo sapiens_hsa000620.68051671
55Phototransduction_Homo sapiens_hsa047440.66890745
56Cell cycle_Homo sapiens_hsa041100.66250160
57N-Glycan biosynthesis_Homo sapiens_hsa005100.66006852
58Biosynthesis of amino acids_Homo sapiens_hsa012300.62991541
59Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.58876985
60Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.57017571
61Fructose and mannose metabolism_Homo sapiens_hsa000510.56901206
62SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53565160
63Propanoate metabolism_Homo sapiens_hsa006400.48715934
64Tyrosine metabolism_Homo sapiens_hsa003500.48500214
65Hedgehog signaling pathway_Homo sapiens_hsa043400.48122706
66Asthma_Homo sapiens_hsa053100.48015386
67Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.45739655
68Collecting duct acid secretion_Homo sapiens_hsa049660.43547683
69Peroxisome_Homo sapiens_hsa041460.41086443
70Drug metabolism - other enzymes_Homo sapiens_hsa009830.40678779
71Phenylalanine metabolism_Homo sapiens_hsa003600.38270264
72Galactose metabolism_Homo sapiens_hsa000520.38263967
73Intestinal immune network for IgA production_Homo sapiens_hsa046720.35459003
74Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.33185539
75mRNA surveillance pathway_Homo sapiens_hsa030150.31643824
76Oocyte meiosis_Homo sapiens_hsa041140.30465464
77Arginine and proline metabolism_Homo sapiens_hsa003300.27467374
78Steroid biosynthesis_Homo sapiens_hsa001000.26451070
79Pentose and glucuronate interconversions_Homo sapiens_hsa000400.26426403
80Ether lipid metabolism_Homo sapiens_hsa005650.24283341
81Basal cell carcinoma_Homo sapiens_hsa052170.24153827
82Starch and sucrose metabolism_Homo sapiens_hsa005000.23983381
83p53 signaling pathway_Homo sapiens_hsa041150.23130398
84Maturity onset diabetes of the young_Homo sapiens_hsa049500.22928430
85Fat digestion and absorption_Homo sapiens_hsa049750.21978500
86Nitrogen metabolism_Homo sapiens_hsa009100.20067157
87HIF-1 signaling pathway_Homo sapiens_hsa040660.19953843
88beta-Alanine metabolism_Homo sapiens_hsa004100.19139900
89Fatty acid degradation_Homo sapiens_hsa000710.19133216
90Glutathione metabolism_Homo sapiens_hsa004800.18525607
91Arginine biosynthesis_Homo sapiens_hsa002200.16800151
92Epstein-Barr virus infection_Homo sapiens_hsa051690.16644242
93Fatty acid metabolism_Homo sapiens_hsa012120.16039903
94Ovarian steroidogenesis_Homo sapiens_hsa049130.15584101
95Histidine metabolism_Homo sapiens_hsa003400.14104047
96Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.11803283
97Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.09426870
98Autoimmune thyroid disease_Homo sapiens_hsa053200.09417625
99Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.07580618
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.07433529

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