DGCR6L

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1deoxyribonucleoside monophosphate metabolic process (GO:0009162)6.39919501
2proteasome assembly (GO:0043248)5.71955408
3regulation of mitochondrial translation (GO:0070129)5.18453478
4negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.61658597
5regulation of cellular amino acid metabolic process (GO:0006521)4.57132658
6GDP-mannose metabolic process (GO:0019673)4.55553450
7iron-sulfur cluster assembly (GO:0016226)4.40061042
8metallo-sulfur cluster assembly (GO:0031163)4.40061042
9protein maturation by protein folding (GO:0022417)4.34662639
10mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.29777825
11negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.29360177
12negative regulation of ligase activity (GO:0051352)4.29360177
13mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.13973896
14positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.13957874
15chaperone-mediated protein transport (GO:0072321)4.08355194
16regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.04759929
17DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.01223469
18respiratory electron transport chain (GO:0022904)3.99116034
19intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.90008354
20signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.90008354
21purine deoxyribonucleotide catabolic process (GO:0009155)3.89147347
22electron transport chain (GO:0022900)3.89106488
23base-excision repair, AP site formation (GO:0006285)3.88050977
24signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.86387247
25signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.86387247
26signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.86387247
27anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.82161073
28ATP synthesis coupled proton transport (GO:0015986)3.81397790
29energy coupled proton transport, down electrochemical gradient (GO:0015985)3.81397790
30deoxyribose phosphate biosynthetic process (GO:0046385)3.78830524
312-deoxyribonucleotide biosynthetic process (GO:0009265)3.78830524
32positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.73567307
33mitochondrial calcium ion transport (GO:0006851)3.72457477
34signal transduction involved in DNA integrity checkpoint (GO:0072401)3.71983829
35signal transduction involved in DNA damage checkpoint (GO:0072422)3.71983829
36protein complex biogenesis (GO:0070271)3.71011814
37pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.68444391
38antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.66479041
39deoxyribonucleotide catabolic process (GO:0009264)3.65446002
40signal transduction involved in cell cycle checkpoint (GO:0072395)3.63970385
41guanosine-containing compound biosynthetic process (GO:1901070)3.63747027
42protein targeting to mitochondrion (GO:0006626)3.57200791
43positive regulation of ligase activity (GO:0051351)3.53989742
44deoxyribose phosphate catabolic process (GO:0046386)3.53348318
45negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.46763878
46mitochondrial respiratory chain complex assembly (GO:0033108)3.44162182
47regulation of cellular amine metabolic process (GO:0033238)3.44096957
48nucleotide salvage (GO:0043173)3.43721069
49purine deoxyribonucleotide metabolic process (GO:0009151)3.41466680
50antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.38961761
51positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.38430397
52regulation of ubiquitin-protein transferase activity (GO:0051438)3.36221106
532-deoxyribonucleotide metabolic process (GO:0009394)3.34589256
54deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.34375304
55rRNA modification (GO:0000154)3.33429646
56cytochrome complex assembly (GO:0017004)3.30946303
57establishment of protein localization to mitochondrion (GO:0072655)3.28632174
58purine nucleotide salvage (GO:0032261)3.26778535
59pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.26124734
60tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.24181879
61RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.24181879
62telomere maintenance via semi-conservative replication (GO:0032201)3.23691890
63pentose metabolic process (GO:0019321)3.22922932
64deoxyribose phosphate metabolic process (GO:0019692)3.21510491
65regulation of ligase activity (GO:0051340)3.21316176
66protein deneddylation (GO:0000338)3.21240117
67nucleoside salvage (GO:0043174)3.20805854
68oxidative phosphorylation (GO:0006119)3.16260292
69respiratory chain complex IV assembly (GO:0008535)3.16055327
70GTP biosynthetic process (GO:0006183)3.15062455
71mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.14764869
72mitochondrial respiratory chain complex I assembly (GO:0032981)3.14764869
73NADH dehydrogenase complex assembly (GO:0010257)3.14764869
74erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.12056113
75L-phenylalanine metabolic process (GO:0006558)3.12056113
76protein retention in ER lumen (GO:0006621)3.11884024
77protein localization to mitochondrion (GO:0070585)3.09660227
78GMP metabolic process (GO:0046037)3.09095447
79positive regulation of cell cycle arrest (GO:0071158)3.06577476
80autophagic vacuole fusion (GO:0000046)3.03494607
81nucleobase-containing small molecule interconversion (GO:0015949)3.03276763
82pyrimidine-containing compound salvage (GO:0008655)3.02665138
83pyrimidine nucleoside salvage (GO:0043097)3.02665138
84DNA strand elongation involved in DNA replication (GO:0006271)3.01230845
85cullin deneddylation (GO:0010388)2.95333179
86purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.94327943
87pseudouridine synthesis (GO:0001522)2.94133912
88negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.93247648
89transcription elongation from RNA polymerase III promoter (GO:0006385)2.93159424
90termination of RNA polymerase III transcription (GO:0006386)2.93159424
91DNA deamination (GO:0045006)2.92785687
92establishment of protein localization to mitochondrial membrane (GO:0090151)2.92512686
93DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.92070882
94deoxyribonucleotide metabolic process (GO:0009262)2.91812016
95DNA strand elongation (GO:0022616)2.90517950
96pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.89694276
97negative regulation of B cell apoptotic process (GO:0002903)2.89556928
98pyrimidine nucleotide catabolic process (GO:0006244)2.89117216
99UTP biosynthetic process (GO:0006228)2.88075532
100nuclear envelope reassembly (GO:0031468)2.87342241

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.65437417
2NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.59092479
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.57095700
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.28765492
5HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.16689403
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.11100630
7MYC_18358816_ChIP-ChIP_MESCs_Mouse2.75254757
8ETS1_20019798_ChIP-Seq_JURKAT_Human2.74552872
9E2F7_22180533_ChIP-Seq_HELA_Human2.65972176
10MYC_18555785_ChIP-Seq_MESCs_Mouse2.65954553
11E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.61776753
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.48219381
13THAP11_20581084_ChIP-Seq_MESCs_Mouse2.46440187
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.45206361
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.38195230
16PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.34450416
17PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.25980413
18EST1_17652178_ChIP-ChIP_JURKAT_Human2.09841581
19GABP_19822575_ChIP-Seq_HepG2_Human2.08588067
20SRF_21415370_ChIP-Seq_HL-1_Mouse2.04049346
21XRN2_22483619_ChIP-Seq_HELA_Human1.96676642
22MYC_19030024_ChIP-ChIP_MESCs_Mouse1.96534456
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.94248278
24E2F1_18555785_ChIP-Seq_MESCs_Mouse1.93676746
25* DCP1A_22483619_ChIP-Seq_HELA_Human1.89392070
26CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.89140411
27CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.86828979
28YY1_21170310_ChIP-Seq_MESCs_Mouse1.82361077
29SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.75800330
30NELFA_20434984_ChIP-Seq_ESCs_Mouse1.75462430
31TET1_21451524_ChIP-Seq_MESCs_Mouse1.74218861
32MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.70149626
33ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.69375410
34BP1_19119308_ChIP-ChIP_Hs578T_Human1.67344686
35ELF1_20517297_ChIP-Seq_JURKAT_Human1.66505455
36FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.66438319
37FOXP3_21729870_ChIP-Seq_TREG_Human1.61547697
38TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61456034
39BCL6_27268052_Chip-Seq_Bcells_Human1.57573817
40MYC_19079543_ChIP-ChIP_MESCs_Mouse1.56329461
41DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.55476585
42CTCF_18555785_ChIP-Seq_MESCs_Mouse1.52991637
43LXR_22292898_ChIP-Seq_THP-1_Human1.52473853
44SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.51652441
45VDR_23849224_ChIP-Seq_CD4+_Human1.50821035
46* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.50692961
47SRY_22984422_ChIP-ChIP_TESTIS_Rat1.46689399
48TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.46142131
49* P68_20966046_ChIP-Seq_HELA_Human1.45854226
50BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.45570562
51CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.44621105
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.42841188
53CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.38836497
54SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.38146698
55KDM5A_27292631_Chip-Seq_BREAST_Human1.36667166
56FOXP1_21924763_ChIP-Seq_HESCs_Human1.34657088
57ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.34464123
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.33572266
59VDR_21846776_ChIP-Seq_THP-1_Human1.31451508
60TTF2_22483619_ChIP-Seq_HELA_Human1.29921202
61BCOR_27268052_Chip-Seq_Bcells_Human1.29463473
62ZNF263_19887448_ChIP-Seq_K562_Human1.28301331
63RARG_19884340_ChIP-ChIP_MEFs_Mouse1.25425794
64POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.25308350
65YY1_22570637_ChIP-Seq_MALME-3M_Human1.25308159
66HOXB4_20404135_ChIP-ChIP_EML_Mouse1.23786782
67CTCF_26484167_Chip-Seq_Bcells_Mouse1.22999854
68SA1_27219007_Chip-Seq_ERYTHROID_Human1.19237473
69* PHF8_20622854_ChIP-Seq_HELA_Human1.18045929
70NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.17458835
71ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.17438138
72CIITA_25753668_ChIP-Seq_RAJI_Human1.17293873
73EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.16782868
74FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.16104311
75SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.14645282
76RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.14464039
77SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.14119899
78CTCF_20526341_ChIP-Seq_ESCs_Human1.13872367
79E2F1_20622854_ChIP-Seq_HELA_Human1.12222174
80CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.11444944
81SA1_27219007_Chip-Seq_Bcells_Human1.11203990
82MYCN_18555785_ChIP-Seq_MESCs_Mouse1.10782758
83DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.10130263
84KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.08823446
85FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08049713
86CTCF_21964334_Chip-Seq_Bcells_Human1.07764273
87RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.07244128
88ERG_20887958_ChIP-Seq_HPC-7_Mouse1.06036578
89TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05907287
90PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05800299
91KLF4_18555785_ChIP-Seq_MESCs_Mouse1.03717144
92NANOG_18555785_ChIP-Seq_MESCs_Mouse1.03335686
93TFEB_21752829_ChIP-Seq_HELA_Human1.03151727
94HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.02557873
95SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.02287780
96TBX5_21415370_ChIP-Seq_HL-1_Mouse1.00991252
97* SMC4_20622854_ChIP-Seq_HELA_Human1.00980542
98CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.99813157
99SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.97892956
100E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.97667632

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis6.32789810
2MP0005058_abnormal_lysosome_morphology3.73236241
3MP0006036_abnormal_mitochondrial_physio3.68726166
4MP0003186_abnormal_redox_activity3.27999508
5MP0005410_abnormal_fertilization2.98935531
6MP0003786_premature_aging2.97066679
7MP0008058_abnormal_DNA_repair2.88559613
8MP0005670_abnormal_white_adipose2.83236336
9MP0005451_abnormal_body_composition2.79363134
10MP0000372_irregular_coat_pigmentation2.77235695
11MP0006035_abnormal_mitochondrial_morpho2.30090398
12MP0009697_abnormal_copulation2.17725436
13MP0002132_abnormal_respiratory_system2.15734109
14MP0003693_abnormal_embryo_hatching2.12939030
15MP0008007_abnormal_cellular_replicative1.99585742
16MP0008260_abnormal_autophagy1.96471098
17MP0003111_abnormal_nucleus_morphology1.95779195
18MP0001764_abnormal_homeostasis1.91266099
19MP0008875_abnormal_xenobiotic_pharmacok1.88457447
20MP0000678_abnormal_parathyroid_gland1.87767123
21MP0001905_abnormal_dopamine_level1.87675368
22MP0008932_abnormal_embryonic_tissue1.82270718
23MP0009840_abnormal_foam_cell1.79047659
24MP0000358_abnormal_cell_content/1.70605337
25MP0003718_maternal_effect1.69563573
26MP0010094_abnormal_chromosome_stability1.67914373
27MP0003077_abnormal_cell_cycle1.58522038
28MP0001661_extended_life_span1.58465007
29MP0004957_abnormal_blastocyst_morpholog1.54820876
30MP0005332_abnormal_amino_acid1.47289370
31MP0000681_abnormal_thyroid_gland1.47013675
32MP0005584_abnormal_enzyme/coenzyme_acti1.40525526
33MP0005330_cardiomyopathy1.38948684
34MP0009333_abnormal_splenocyte_physiolog1.38468473
35MP0003191_abnormal_cellular_cholesterol1.33608061
36MP0004233_abnormal_muscle_weight1.32224451
37MP0003011_delayed_dark_adaptation1.28419580
38MP0005075_abnormal_melanosome_morpholog1.25096750
39MP0005319_abnormal_enzyme/_coenzyme1.24511492
40MP0000749_muscle_degeneration1.22397094
41MP0004147_increased_porphyrin_level1.20493818
42MP0001853_heart_inflammation1.18106714
43MP0009278_abnormal_bone_marrow1.17966712
44MP0000747_muscle_weakness1.17811348
45MP0008995_early_reproductive_senescence1.17324673
46MP0002139_abnormal_hepatobiliary_system1.17323465
47MP0002736_abnormal_nociception_after1.14334058
48MP0001929_abnormal_gametogenesis1.12085149
49MP0001529_abnormal_vocalization1.11696105
50MP0000343_altered_response_to1.11364076
51MP0002019_abnormal_tumor_incidence1.08104303
52MP0003698_abnormal_male_reproductive1.08080317
53MP0003646_muscle_fatigue1.07923318
54MP0003172_abnormal_lysosome_physiology1.07257818
55MP0000750_abnormal_muscle_regeneration1.06415598
56MP0005464_abnormal_platelet_physiology1.06142851
57MP0001727_abnormal_embryo_implantation1.05953494
58MP0001881_abnormal_mammary_gland1.05431221
59MP0000751_myopathy1.04570019
60MP0003878_abnormal_ear_physiology1.02692103
61MP0005377_hearing/vestibular/ear_phenot1.02692103
62MP0003137_abnormal_impulse_conducting1.00814516
63MP0002269_muscular_atrophy1.00413365
64MP0000313_abnormal_cell_death0.97213292
65MP0002148_abnormal_hypersensitivity_rea0.96773188
66MP0005636_abnormal_mineral_homeostasis0.96585761
67MP0008873_increased_physiological_sensi0.95207662
68MP0005083_abnormal_biliary_tract0.95128144
69MP0000858_altered_metastatic_potential0.92675921
70MP0003075_altered_response_to0.89074357
71MP0005266_abnormal_metabolism0.87460002
72MP0009643_abnormal_urine_homeostasis0.83313472
73MP0005379_endocrine/exocrine_gland_phen0.83117297
74MP0004145_abnormal_muscle_electrophysio0.82718194
75MP0002163_abnormal_gland_morphology0.81886839
76MP0001968_abnormal_touch/_nociception0.81374908
77MP0005365_abnormal_bile_salt0.80286874
78MP0002249_abnormal_larynx_morphology0.80030170
79MP0005367_renal/urinary_system_phenotyp0.79274324
80MP0000516_abnormal_urinary_system0.79274324
81MP0001545_abnormal_hematopoietic_system0.79095119
82MP0005397_hematopoietic_system_phenotyp0.79095119
83MP0008469_abnormal_protein_level0.77885597
84MP0002161_abnormal_fertility/fecundity0.73639254
85MP0001243_abnormal_dermal_layer0.73341258
86MP0005360_urolithiasis0.73276594
87MP0002234_abnormal_pharynx_morphology0.71720331
88MP0000759_abnormal_skeletal_muscle0.71150477
89MP0009765_abnormal_xenobiotic_induced0.65420015
90MP0002210_abnormal_sex_determination0.64313298
91MP0001145_abnormal_male_reproductive0.64130539
92MP0001730_embryonic_growth_arrest0.62023789
93MP0002837_dystrophic_cardiac_calcinosis0.61877203
94MP0002722_abnormal_immune_system0.60783687
95MP0000598_abnormal_liver_morphology0.58735535
96MP0000653_abnormal_sex_gland0.58486157
97MP0005501_abnormal_skin_physiology0.58329750
98MP0005646_abnormal_pituitary_gland0.58305979
99MP0009764_decreased_sensitivity_to0.57752647
100MP0002970_abnormal_white_adipose0.57647900

Predicted human phenotypes

RankGene SetZ-score
1Abnormal mitochondria in muscle tissue (HP:0008316)5.27293717
2Acute necrotizing encephalopathy (HP:0006965)4.92101534
3Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.72170095
4Decreased activity of mitochondrial respiratory chain (HP:0008972)4.72170095
5Mitochondrial inheritance (HP:0001427)4.57798667
6Acute encephalopathy (HP:0006846)4.54275401
7Hepatocellular necrosis (HP:0001404)4.48493032
8Increased intramyocellular lipid droplets (HP:0012240)4.30579949
9Increased CSF lactate (HP:0002490)4.19882706
10Hepatic necrosis (HP:0002605)4.15170165
11Increased muscle lipid content (HP:0009058)4.13412138
12Progressive macrocephaly (HP:0004481)3.82694967
13Type I transferrin isoform profile (HP:0003642)3.60435943
14Cerebral edema (HP:0002181)3.54366000
15Ragged-red muscle fibers (HP:0003200)3.50369385
16Lactic acidosis (HP:0003128)3.33121319
17Hyperthyroidism (HP:0000836)3.14398489
18Abnormal protein N-linked glycosylation (HP:0012347)3.13630400
19Abnormal protein glycosylation (HP:0012346)3.13630400
20Abnormal glycosylation (HP:0012345)3.13630400
21Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.13630400
22Abnormality of liposaccharide metabolism (HP:0010968)3.13409233
23Abnormality of glycosphingolipid metabolism (HP:0004343)3.13409233
24Abnormality of glycolipid metabolism (HP:0010969)3.13409233
25Exercise intolerance (HP:0003546)3.11595067
26Respiratory failure (HP:0002878)3.05710307
27Truncus arteriosus (HP:0001660)3.05471543
28Opisthotonus (HP:0002179)3.03808635
29Renal Fanconi syndrome (HP:0001994)3.01617006
30Abnormal gallbladder physiology (HP:0012438)3.00167638
31Cholecystitis (HP:0001082)3.00167638
32Hypokinesia (HP:0002375)2.96666755
33Increased serum lactate (HP:0002151)2.95302318
34Abnormality of aromatic amino acid family metabolism (HP:0004338)2.93970614
35Lipid accumulation in hepatocytes (HP:0006561)2.80296225
36Spastic paraparesis (HP:0002313)2.79860073
37Hypertensive crisis (HP:0100735)2.75367192
38Abnormality of dicarboxylic acid metabolism (HP:0010995)2.73063844
39Dicarboxylic aciduria (HP:0003215)2.73063844
40Aplasia/Hypoplasia of the sacrum (HP:0008517)2.71503181
41Increased hepatocellular lipid droplets (HP:0006565)2.68040764
42Petechiae (HP:0000967)2.64553372
43Emotional lability (HP:0000712)2.61865487
44Rhabdomyolysis (HP:0003201)2.59390521
45Reduced antithrombin III activity (HP:0001976)2.58915374
46Seborrheic dermatitis (HP:0001051)2.56015107
47Cerebral hypomyelination (HP:0006808)2.55719569
48Testicular atrophy (HP:0000029)2.53674220
49Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.51044491
50Progressive microcephaly (HP:0000253)2.48921401
51Progressive muscle weakness (HP:0003323)2.47052347
52Microvesicular hepatic steatosis (HP:0001414)2.43713142
53Vertebral compression fractures (HP:0002953)2.42308125
54Cerebral palsy (HP:0100021)2.39916721
55CNS demyelination (HP:0007305)2.39185325
56Aplastic anemia (HP:0001915)2.36091356
57Generalized aminoaciduria (HP:0002909)2.34791584
58Lethargy (HP:0001254)2.34021434
59Abnormality of glycolysis (HP:0004366)2.32242323
60Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.30607624
61Muscle fiber atrophy (HP:0100295)2.27143805
62Myoglobinuria (HP:0002913)2.27117271
63Respiratory difficulties (HP:0002880)2.24721731
64Increased serum pyruvate (HP:0003542)2.24581301
65Degeneration of anterior horn cells (HP:0002398)2.21715113
66Abnormality of the anterior horn cell (HP:0006802)2.21715113
67Rough bone trabeculation (HP:0100670)2.18358172
68Progressive neurologic deterioration (HP:0002344)2.17532370
69Microretrognathia (HP:0000308)2.17069924
70Pancytopenia (HP:0001876)2.12539384
713-Methylglutaconic aciduria (HP:0003535)2.11712647
72Chronic obstructive pulmonary disease (HP:0006510)2.08868120
73Obstructive lung disease (HP:0006536)2.08868120
74Retinal dysplasia (HP:0007973)2.02726570
75Methylmalonic aciduria (HP:0012120)2.02457985
76Severe visual impairment (HP:0001141)2.01615109
77Myopathic facies (HP:0002058)2.00122703
78Prolonged neonatal jaundice (HP:0006579)1.99318236
79Vacuolated lymphocytes (HP:0001922)1.96982446
80Abnormality of fatty-acid metabolism (HP:0004359)1.91512415
81Cholelithiasis (HP:0001081)1.91169684
82Centrally nucleated skeletal muscle fibers (HP:0003687)1.90664459
83Neoplasm of head and neck (HP:0012288)1.90369139
84Esophageal neoplasm (HP:0100751)1.90369139
85Nemaline bodies (HP:0003798)1.89502183
86Trismus (HP:0000211)1.89028744
87Leukodystrophy (HP:0002415)1.86627795
88Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.85939603
89Abnormality of the tricuspid valve (HP:0001702)1.83990966
90Atelectasis (HP:0100750)1.83043399
91Delusions (HP:0000746)1.82332109
92Type 2 muscle fiber atrophy (HP:0003554)1.81760303
93Hyperammonemia (HP:0001987)1.81531168
94Gliosis (HP:0002171)1.80879363
95Decreased electroretinogram (ERG) amplitude (HP:0000654)1.78894034
96Exertional dyspnea (HP:0002875)1.78625918
97Abnormal gallbladder morphology (HP:0012437)1.75481458
98Nonimmune hydrops fetalis (HP:0001790)1.73600674
99Optic disc pallor (HP:0000543)1.73108327
100Vomiting (HP:0002013)1.72933514

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK24.53843083
2NME24.29052673
3BCKDK4.22437625
4TESK13.87115916
5VRK23.79803444
6BUB13.28953257
7KDR3.06222606
8MAP3K112.75554432
9NME12.22897301
10LIMK12.15762319
11PBK2.12934421
12ARAF1.97698047
13PIM21.96880840
14SCYL21.94613975
15MAP4K21.84489238
16ABL21.84356010
17MAP3K121.82133330
18ZAK1.73385229
19STK161.70691909
20MAPKAPK31.70191689
21DAPK11.67210290
22MUSK1.67008319
23SRPK11.27364909
24CDC71.27236397
25IRAK31.23016864
26MYLK1.21635114
27VRK11.21283832
28AURKA1.20980644
29TAOK21.17218152
30TLK11.16784331
31CSNK1G31.07051534
32EPHA21.05819487
33PAK41.04441350
34ERN10.97216610
35MAP3K30.95781041
36TBK10.92692687
37NEK10.91147341
38PLK40.91080588
39CDK190.89466394
40MAP2K70.88800429
41ILK0.86439088
42BRSK10.84231499
43PAK10.83902743
44MAP4K10.82131136
45BRAF0.81625668
46CCNB10.81135246
47RPS6KA50.79047188
48CAMK2G0.77665519
49LRRK20.75807613
50DAPK30.73022885
51INSRR0.72699741
52PRKD30.70554759
53IRAK20.69518594
54PAK60.69045477
55PLK10.68804870
56CSNK1A1L0.68631150
57DYRK20.68461755
58CHEK20.64421336
59CSNK1G10.63496407
60PDK20.63214995
61TRIM280.60675900
62TXK0.58247789
63CSNK1G20.57065238
64TTK0.56563421
65TYK20.56266054
66CDK70.53543752
67AURKB0.53276187
68EIF2AK10.52352547
69RPS6KA40.51830612
70MAP3K80.49896512
71ATR0.49177600
72FLT30.48372660
73TIE10.47725662
74TNK20.46836971
75PRKCI0.45595145
76CDK140.45126614
77NUAK10.44348740
78FES0.42431705
79MAP2K20.41996510
80RPS6KB20.41519350
81CSNK2A10.41372130
82CDK80.41025119
83CDK11A0.39586204
84SMG10.38419310
85MAP2K30.37602362
86OBSCN0.37185301
87GRK60.36512037
88RAF10.36466621
89MAP3K10.35182226
90TRIB30.32574568
91CDK150.31734490
92CSNK2A20.31273342
93MAPK110.30750073
94ZAP700.29870738
95CDK180.29724091
96AKT20.28306046
97PKN10.27981763
98PHKG20.25901674
99PHKG10.25901674
100GRK50.25508752

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.88993372
2Oxidative phosphorylation_Homo sapiens_hsa001903.42175246
3DNA replication_Homo sapiens_hsa030303.04469185
4Parkinsons disease_Homo sapiens_hsa050122.97031343
5Base excision repair_Homo sapiens_hsa034102.72747383
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.66139289
7Fatty acid elongation_Homo sapiens_hsa000622.65359295
8Sulfur relay system_Homo sapiens_hsa041222.52842733
9Ribosome_Homo sapiens_hsa030102.44034204
10Mismatch repair_Homo sapiens_hsa034302.42265169
11Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.26542828
12Pyrimidine metabolism_Homo sapiens_hsa002402.19822030
13RNA polymerase_Homo sapiens_hsa030202.18362824
14Huntingtons disease_Homo sapiens_hsa050162.06820186
15Biosynthesis of amino acids_Homo sapiens_hsa012301.89418485
16Alzheimers disease_Homo sapiens_hsa050101.87321742
17Homologous recombination_Homo sapiens_hsa034401.77131409
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.76392981
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.71355931
20Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.70934673
21Carbon metabolism_Homo sapiens_hsa012001.70401688
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.66981368
23Glutathione metabolism_Homo sapiens_hsa004801.58257182
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.54102371
25Pentose phosphate pathway_Homo sapiens_hsa000301.50456642
26Other glycan degradation_Homo sapiens_hsa005111.48845389
27Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.41076701
28Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.40616059
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.39241774
30Folate biosynthesis_Homo sapiens_hsa007901.37902935
31Phenylalanine metabolism_Homo sapiens_hsa003601.36628706
32Nucleotide excision repair_Homo sapiens_hsa034201.36056600
33Fructose and mannose metabolism_Homo sapiens_hsa000511.34475816
34Galactose metabolism_Homo sapiens_hsa000521.33858805
35Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.32541841
36Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.27156235
37Tyrosine metabolism_Homo sapiens_hsa003501.24849157
38Pyruvate metabolism_Homo sapiens_hsa006201.18149995
39Purine metabolism_Homo sapiens_hsa002301.14751207
40Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.12656229
41Peroxisome_Homo sapiens_hsa041461.12363886
42Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.11830050
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.10643483
44Spliceosome_Homo sapiens_hsa030401.06636680
45Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05411728
46N-Glycan biosynthesis_Homo sapiens_hsa005101.04702633
47Drug metabolism - other enzymes_Homo sapiens_hsa009831.04147647
48Glycosaminoglycan degradation_Homo sapiens_hsa005311.03147173
49Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.02311677
50Cardiac muscle contraction_Homo sapiens_hsa042601.01348105
51Metabolic pathways_Homo sapiens_hsa011000.99867354
52Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.99391991
53Fanconi anemia pathway_Homo sapiens_hsa034600.98471641
54Vibrio cholerae infection_Homo sapiens_hsa051100.96217889
55Vitamin B6 metabolism_Homo sapiens_hsa007500.93647741
56Butanoate metabolism_Homo sapiens_hsa006500.91559758
57Fatty acid metabolism_Homo sapiens_hsa012120.91183622
58SNARE interactions in vesicular transport_Homo sapiens_hsa041300.86882745
59One carbon pool by folate_Homo sapiens_hsa006700.84957018
60Primary bile acid biosynthesis_Homo sapiens_hsa001200.84317228
61Sulfur metabolism_Homo sapiens_hsa009200.81914853
62Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.80560641
63Fatty acid degradation_Homo sapiens_hsa000710.80175788
64Lysosome_Homo sapiens_hsa041420.79656100
65Collecting duct acid secretion_Homo sapiens_hsa049660.77965486
66Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74563960
67RNA transport_Homo sapiens_hsa030130.73342726
68Cyanoamino acid metabolism_Homo sapiens_hsa004600.71611113
69Arginine and proline metabolism_Homo sapiens_hsa003300.70801408
70Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.70718775
71Pentose and glucuronate interconversions_Homo sapiens_hsa000400.66052811
72Protein export_Homo sapiens_hsa030600.61691243
73Synaptic vesicle cycle_Homo sapiens_hsa047210.61288587
74Primary immunodeficiency_Homo sapiens_hsa053400.58777527
75Arginine biosynthesis_Homo sapiens_hsa002200.57770891
76Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.54728114
77Propanoate metabolism_Homo sapiens_hsa006400.54139666
78Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.49962900
79Chemical carcinogenesis_Homo sapiens_hsa052040.48641517
80Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.47116429
81beta-Alanine metabolism_Homo sapiens_hsa004100.45247669
82Shigellosis_Homo sapiens_hsa051310.36332252
83Selenocompound metabolism_Homo sapiens_hsa004500.32648891
84Epstein-Barr virus infection_Homo sapiens_hsa051690.29648422
85Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.29553752
86Non-homologous end-joining_Homo sapiens_hsa034500.29193008
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.28694914
88Retinol metabolism_Homo sapiens_hsa008300.27038017
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.26360547
90Regulation of autophagy_Homo sapiens_hsa041400.23428565
91Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.23208704
92Cell cycle_Homo sapiens_hsa041100.22057301
93RNA degradation_Homo sapiens_hsa030180.20018977
94Arachidonic acid metabolism_Homo sapiens_hsa005900.19623967
95Systemic lupus erythematosus_Homo sapiens_hsa053220.19482127
96Salmonella infection_Homo sapiens_hsa051320.16294406
97Tryptophan metabolism_Homo sapiens_hsa003800.15581046
98Sphingolipid metabolism_Homo sapiens_hsa006000.14024896
99Steroid hormone biosynthesis_Homo sapiens_hsa001400.12339977
100Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.11515026

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