PGAM4

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 intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cytidine deamination (GO:0009972)6.82823917
2cytidine metabolic process (GO:0046087)6.82823917
3cytidine catabolic process (GO:0006216)6.82823917
4DNA deamination (GO:0045006)6.55732995
5pyrimidine ribonucleoside catabolic process (GO:0046133)6.05200554
6protein polyglutamylation (GO:0018095)5.90543607
7regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450915.76010564
8negative regulation by host of viral transcription (GO:0043922)4.72927569
9interferon-gamma production (GO:0032609)4.44900375
10T cell migration (GO:0072678)4.29687745
11positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)4.25854590
12response to pheromone (GO:0019236)4.09045645
13regulation of activation of Janus kinase activity (GO:0010533)4.05964546
14positive regulation of natural killer cell mediated immunity (GO:0002717)4.05176178
15lymphocyte chemotaxis (GO:0048247)4.00166963
16regulation of regulatory T cell differentiation (GO:0045589)3.88371683
17eosinophil chemotaxis (GO:0048245)3.77881445
18regulation of interleukin-12 biosynthetic process (GO:0045075)3.73670879
19positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.70649180
20sequestering of actin monomers (GO:0042989)3.69821443
21regulation of leukocyte mediated cytotoxicity (GO:0001910)3.69241693
22regulation of natural killer cell mediated immunity (GO:0002715)3.66833638
23regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.66833638
24positive regulation of cell killing (GO:0031343)3.56169442
25regulation of cell killing (GO:0031341)3.55370539
26chaperone-mediated protein transport (GO:0072321)3.55002317
27negative regulation of execution phase of apoptosis (GO:1900118)3.51599555
28mitochondrial respiratory chain complex I assembly (GO:0032981)3.44852481
29NADH dehydrogenase complex assembly (GO:0010257)3.44852481
30mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.44852481
31negative regulation of telomere maintenance (GO:0032205)3.41094501
32eosinophil migration (GO:0072677)3.40639444
33L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.35858237
34proteasome assembly (GO:0043248)3.35437656
35cellular response to interleukin-15 (GO:0071350)3.32882062
36regulation of T cell mediated cytotoxicity (GO:0001914)3.29210653
37positive regulation of calcium-mediated signaling (GO:0050850)3.28919131
38cell wall macromolecule catabolic process (GO:0016998)3.27817057
39positive regulation of T cell mediated cytotoxicity (GO:0001916)3.21105936
40positive regulation of T cell chemotaxis (GO:0010820)3.20175707
41regulation of T cell chemotaxis (GO:0010819)3.20175707
42pyrimidine dimer repair (GO:0006290)3.20062453
43positive regulation of T cell cytokine production (GO:0002726)3.16046137
44regulation of lymphocyte chemotaxis (GO:1901623)3.15471470
45pyrimidine nucleobase catabolic process (GO:0006208)3.12434489
46regulation of chronic inflammatory response (GO:0002676)3.09472742
47microtubule severing (GO:0051013)3.03065664
48water-soluble vitamin biosynthetic process (GO:0042364)3.02073675
49metallo-sulfur cluster assembly (GO:0031163)3.01894763
50iron-sulfur cluster assembly (GO:0016226)3.01894763
51negative T cell selection (GO:0043383)2.98030385
52protein complex biogenesis (GO:0070271)2.97306559
53cellular defense response (GO:0006968)2.92420505
54negative regulation of mast cell activation (GO:0033004)2.90508330
55positive regulation of defense response to virus by host (GO:0002230)2.90367683
56negative regulation of T cell apoptotic process (GO:0070233)2.88517011
57positive regulation of T-helper 1 type immune response (GO:0002827)2.87566041
58tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.85559927
59RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.85559927
60L-methionine salvage (GO:0071267)2.84103124
61L-methionine biosynthetic process (GO:0071265)2.84103124
62amino acid salvage (GO:0043102)2.84103124
63ribonucleoprotein complex disassembly (GO:0032988)2.82958690
64positive regulation of interleukin-8 secretion (GO:2000484)2.82950451
65positive regulation of monocyte chemotaxis (GO:0090026)2.82855290
66behavioral response to nicotine (GO:0035095)2.81567582
67regulation of T cell receptor signaling pathway (GO:0050856)2.79945121
68mitochondrial respiratory chain complex assembly (GO:0033108)2.76755496
69DNA demethylation (GO:0080111)2.76537652
70adaptation of signaling pathway (GO:0023058)2.74622889
71positive regulation of mitochondrial fission (GO:0090141)2.74404431
72negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.73180396
73macrophage chemotaxis (GO:0048246)2.72234345
74cell wall macromolecule metabolic process (GO:0044036)2.72218408
75positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.71972186
76neural tube formation (GO:0001841)2.71466411
77lymphocyte migration (GO:0072676)2.71261858
78regulation of cellular amino acid metabolic process (GO:0006521)2.70982260
79activated T cell proliferation (GO:0050798)2.68895662
80Arp2/3 complex-mediated actin nucleation (GO:0034314)2.65155345
81positive regulation of T cell apoptotic process (GO:0070234)2.64861966
82establishment of protein localization to mitochondrial membrane (GO:0090151)2.64425903
83transcription elongation from RNA polymerase III promoter (GO:0006385)2.62018920
84termination of RNA polymerase III transcription (GO:0006386)2.62018920
85regulation of isotype switching to IgG isotypes (GO:0048302)2.61874332
86negative regulation of B cell proliferation (GO:0030889)2.60658846
87regulation of alpha-beta T cell proliferation (GO:0046640)2.58929931
88DNA damage response, detection of DNA damage (GO:0042769)2.52852649
89organelle disassembly (GO:1903008)2.52179602
90positive regulation of interleukin-1 beta secretion (GO:0050718)2.50893417
91negative regulation of lymphocyte apoptotic process (GO:0070229)2.50858311
92protein deneddylation (GO:0000338)2.48970421
93negative regulation of viral transcription (GO:0032897)2.47268933
94positive regulation of lymphocyte migration (GO:2000403)2.47107603
95regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033392.46889801
96protein neddylation (GO:0045116)2.46876081
97positive regulation of T cell mediated immunity (GO:0002711)2.45994341
98positive regulation of alpha-beta T cell proliferation (GO:0046641)2.45317270
99DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.44496292
100gamma-aminobutyric acid transport (GO:0015812)2.43949988

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.72743974
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.20433318
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.17181758
4ELF1_17652178_ChIP-ChIP_JURKAT_Human4.13973555
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.10598084
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.78472739
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.30291074
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.02547507
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.87990098
10NOTCH1_21737748_ChIP-Seq_TLL_Human2.68234345
11VDR_23849224_ChIP-Seq_CD4+_Human2.64667640
12ZNF274_21170338_ChIP-Seq_K562_Hela2.63322310
13TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.50943739
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.40603169
15ETS1_20019798_ChIP-Seq_JURKAT_Human2.40513123
16CREB1_15753290_ChIP-ChIP_HEK293T_Human2.26971202
17SRF_21415370_ChIP-Seq_HL-1_Mouse2.18718269
18MYC_18940864_ChIP-ChIP_HL60_Human2.14052851
19ELK1_19687146_ChIP-ChIP_HELA_Human2.09338787
20FOXP3_21729870_ChIP-Seq_TREG_Human2.05669300
21STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.98891559
22IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.93428059
23IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.90929770
24PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.90147950
25VDR_22108803_ChIP-Seq_LS180_Human1.85733198
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.82303497
27IGF1R_20145208_ChIP-Seq_DFB_Human1.77864780
28PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.71236300
29GABP_19822575_ChIP-Seq_HepG2_Human1.61909304
30DCP1A_22483619_ChIP-Seq_HELA_Human1.54306642
31PCGF2_27294783_Chip-Seq_ESCs_Mouse1.53958645
32MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.53807676
33TAF15_26573619_Chip-Seq_HEK293_Human1.53481902
34THAP11_20581084_ChIP-Seq_MESCs_Mouse1.47230904
35YY1_21170310_ChIP-Seq_MESCs_Mouse1.46890307
36POU5F1_16153702_ChIP-ChIP_HESCs_Human1.44903921
37POU3F2_20337985_ChIP-ChIP_501MEL_Human1.44589517
38HOXB4_20404135_ChIP-ChIP_EML_Mouse1.40200377
39ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.39689658
40IRF1_19129219_ChIP-ChIP_H3396_Human1.39254069
41MYB_26560356_Chip-Seq_TH2_Human1.37675716
42HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.36750390
43TP53_22573176_ChIP-Seq_HFKS_Human1.36615922
44STAT4_19710469_ChIP-ChIP_TH1__Mouse1.35579743
45GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.29475152
46ELK1_22589737_ChIP-Seq_MCF10A_Human1.28975040
47FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.28601416
48CIITA_25753668_ChIP-Seq_RAJI_Human1.25737480
49PADI4_21655091_ChIP-ChIP_MCF-7_Human1.24786483
50PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24699953
51CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.24183078
52E2F4_17652178_ChIP-ChIP_JURKAT_Human1.23844248
53FUS_26573619_Chip-Seq_HEK293_Human1.23012269
54POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.22491283
55MYC_18358816_ChIP-ChIP_MESCs_Mouse1.21660857
56SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.21443951
57HTT_18923047_ChIP-ChIP_STHdh_Human1.18762591
58E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.13343920
59ZFP57_27257070_Chip-Seq_ESCs_Mouse1.13051241
60AR_20517297_ChIP-Seq_VCAP_Human1.11160070
61FOXA1_27270436_Chip-Seq_PROSTATE_Human1.11035690
62FOXA1_25329375_ChIP-Seq_VCAP_Human1.11035690
63EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.10493441
64GATA3_26560356_Chip-Seq_TH2_Human1.10079360
65CTBP1_25329375_ChIP-Seq_LNCAP_Human1.09872722
66EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.08141552
67PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.07168806
68MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06510474
69HOXB7_26014856_ChIP-Seq_BT474_Human1.01983637
70E2F1_18555785_ChIP-Seq_MESCs_Mouse1.01763690
71MYC_19030024_ChIP-ChIP_MESCs_Mouse1.01435718
72FOXA1_21572438_ChIP-Seq_LNCaP_Human0.99965990
73SOX2_18555785_ChIP-Seq_MESCs_Mouse0.98938564
74CTBP2_25329375_ChIP-Seq_LNCAP_Human0.98788708
75FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.97810201
76EWS_26573619_Chip-Seq_HEK293_Human0.96530589
77NCOR_22424771_ChIP-Seq_293T_Human0.96085957
78GATA3_27048872_Chip-Seq_THYMUS_Human0.95875638
79* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.94838041
80MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.94309215
81RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.92148320
82LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.91678935
83TTF2_22483619_ChIP-Seq_HELA_Human0.90753864
84SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.90605011
85AUTS2_25519132_ChIP-Seq_293T-REX_Human0.90031767
86SOX2_19829295_ChIP-Seq_ESCs_Human0.89972962
87NANOG_19829295_ChIP-Seq_ESCs_Human0.89972962
88FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89951555
89CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.89569259
90SOX2_16153702_ChIP-ChIP_HESCs_Human0.89540118
91GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.89411915
92GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87639136
93XRN2_22483619_ChIP-Seq_HELA_Human0.87071270
94GATA3_21878914_ChIP-Seq_MCF-7_Human0.85586252
95EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.83647820
96CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.83569807
97SUZ12_27294783_Chip-Seq_NPCs_Mouse0.83378845
98TAF2_19829295_ChIP-Seq_ESCs_Human0.83165296
99FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.83073084
100MYC_18555785_ChIP-Seq_MESCs_Mouse0.82491392

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001986_abnormal_taste_sensitivity5.80861521
2MP0005671_abnormal_response_to5.38912092
3MP0005423_abnormal_somatic_nervous4.70970462
4MP0001529_abnormal_vocalization3.01483695
5MP0002102_abnormal_ear_morphology2.63843506
6MP0009785_altered_susceptibility_to2.49810830
7MP0001905_abnormal_dopamine_level2.19516699
8MP0008058_abnormal_DNA_repair2.17986146
9MP0003011_delayed_dark_adaptation2.10289866
10MP0008789_abnormal_olfactory_epithelium2.06138540
11MP0005499_abnormal_olfactory_system1.99543450
12MP0005394_taste/olfaction_phenotype1.99543450
13MP0004145_abnormal_muscle_electrophysio1.95694777
14MP0002822_catalepsy1.94314539
15MP0001984_abnormal_olfaction1.85443845
16MP0003763_abnormal_thymus_physiology1.85252587
17MP0006292_abnormal_olfactory_placode1.85166931
18MP0009333_abnormal_splenocyte_physiolog1.82871242
19MP0004147_increased_porphyrin_level1.73695298
20MP0002736_abnormal_nociception_after1.67793321
21MP0006072_abnormal_retinal_apoptosis1.65543520
22MP0001968_abnormal_touch/_nociception1.59731894
23MP0002638_abnormal_pupillary_reflex1.58992846
24MP0005645_abnormal_hypothalamus_physiol1.58046430
25MP0004142_abnormal_muscle_tone1.57247449
26MP0005000_abnormal_immune_tolerance1.47099536
27MP0001873_stomach_inflammation1.46261314
28MP0006035_abnormal_mitochondrial_morpho1.45302319
29MP0000569_abnormal_digit_pigmentation1.43883279
30MP0005253_abnormal_eye_physiology1.42295464
31MP0002277_abnormal_respiratory_mucosa1.34738049
32MP0002653_abnormal_ependyma_morphology1.29121478
33MP0001835_abnormal_antigen_presentation1.28615604
34MP0002723_abnormal_immune_serum1.25544836
35MP0005387_immune_system_phenotype1.22635152
36MP0001790_abnormal_immune_system1.22635152
37MP0001800_abnormal_humoral_immune1.21101550
38MP0009745_abnormal_behavioral_response1.20456597
39MP0002837_dystrophic_cardiac_calcinosis1.20036785
40MP0005551_abnormal_eye_electrophysiolog1.18414200
41MP0008877_abnormal_DNA_methylation1.16508597
42MP0002420_abnormal_adaptive_immunity1.16000722
43MP0003786_premature_aging1.14872013
44MP0003693_abnormal_embryo_hatching1.14214978
45MP0001819_abnormal_immune_cell1.13344595
46MP0003045_fibrosis1.10787261
47MP0002148_abnormal_hypersensitivity_rea1.08993268
48MP0010307_abnormal_tumor_latency1.04765378
49MP0005025_abnormal_response_to1.04717074
50MP0001188_hyperpigmentation1.03686023
51MP0002163_abnormal_gland_morphology1.02733550
52MP0003866_abnormal_defecation1.00380120
53MP0006276_abnormal_autonomic_nervous1.00324843
54MP0003448_altered_tumor_morphology0.99672127
55MP0008872_abnormal_physiological_respon0.96386630
56MP0002405_respiratory_system_inflammati0.95349022
57MP0008875_abnormal_xenobiotic_pharmacok0.94464462
58MP0003221_abnormal_cardiomyocyte_apopto0.93311822
59MP0000372_irregular_coat_pigmentation0.92784536
60MP0001764_abnormal_homeostasis0.92514025
61MP0006082_CNS_inflammation0.89029109
62MP0008007_abnormal_cellular_replicative0.88202021
63MP0002452_abnormal_antigen_presenting0.87703299
64MP0000685_abnormal_immune_system0.85655276
65MP0003183_abnormal_peptide_metabolism0.85561655
66MP0000703_abnormal_thymus_morphology0.85402362
67MP0001919_abnormal_reproductive_system0.85045943
68MP0003436_decreased_susceptibility_to0.84230586
69MP0005310_abnormal_salivary_gland0.83822576
70MP0005410_abnormal_fertilization0.83391263
71MP0009046_muscle_twitch0.82987169
72MP0001970_abnormal_pain_threshold0.82259898
73MP0003137_abnormal_impulse_conducting0.81553288
74MP0010155_abnormal_intestine_physiology0.81519025
75MP0002006_tumorigenesis0.81301579
76MP0001502_abnormal_circadian_rhythm0.81194361
77MP0004924_abnormal_behavior0.79001601
78MP0005386_behavior/neurological_phenoty0.79001601
79MP0000689_abnormal_spleen_morphology0.78585841
80MP0004133_heterotaxia0.78231814
81MP0002234_abnormal_pharynx_morphology0.78017706
82MP0002572_abnormal_emotion/affect_behav0.77600410
83MP0000716_abnormal_immune_system0.77527527
84MP0001501_abnormal_sleep_pattern0.77007303
85MP0002398_abnormal_bone_marrow0.76708310
86MP0002722_abnormal_immune_system0.76266270
87MP0000049_abnormal_middle_ear0.75833696
88MP0002733_abnormal_thermal_nociception0.72537966
89MP0002272_abnormal_nervous_system0.71665428
90MP0005379_endocrine/exocrine_gland_phen0.71045886
91MP0008469_abnormal_protein_level0.69136523
92MP0009765_abnormal_xenobiotic_induced0.67842814
93MP0002938_white_spotting0.67623175
94MP0003186_abnormal_redox_activity0.66394221
95MP0001845_abnormal_inflammatory_respons0.65076037
96MP0005670_abnormal_white_adipose0.64963138
97MP0001661_extended_life_span0.64502504
98MP0001486_abnormal_startle_reflex0.64083892
99MP0002067_abnormal_sensory_capabilities0.63768628
100MP0002751_abnormal_autonomic_nervous0.63712684

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)4.79607908
2Abnormality of T cell number (HP:0011839)4.69294558
3IgG deficiency (HP:0004315)3.88648209
4Aplastic anemia (HP:0001915)3.73890828
5Abnormality of T cells (HP:0002843)3.43023025
6Decreased activity of mitochondrial respiratory chain (HP:0008972)3.27910139
7Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.27910139
8Recurrent cutaneous fungal infections (HP:0011370)3.18975875
9Chronic mucocutaneous candidiasis (HP:0002728)3.18975875
10Acute necrotizing encephalopathy (HP:0006965)3.18612348
11Hypoproteinemia (HP:0003075)3.16334491
12Increased IgM level (HP:0003496)3.15903299
13Pancreatic cysts (HP:0001737)3.03493574
14Abnormal mitochondria in muscle tissue (HP:0008316)2.96047580
15Mitochondrial inheritance (HP:0001427)2.94094264
16Aplasia/hypoplasia of the uterus (HP:0008684)2.71793898
17Severe combined immunodeficiency (HP:0004430)2.70821672
18Acute encephalopathy (HP:0006846)2.67120172
19Abnormal delayed hypersensitivity skin test (HP:0002963)2.65461315
20True hermaphroditism (HP:0010459)2.59861972
21Abnormality of alanine metabolism (HP:0010916)2.58099990
22Hyperalaninemia (HP:0003348)2.58099990
23Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.58099990
24Abnormal albumin level (HP:0012116)2.55484149
25Hypoalbuminemia (HP:0003073)2.55484149
26Increased CSF lactate (HP:0002490)2.50281626
273-Methylglutaconic aciduria (HP:0003535)2.50244511
28Chronic diarrhea (HP:0002028)2.50116942
29Parakeratosis (HP:0001036)2.46909086
30Progressive macrocephaly (HP:0004481)2.45465388
31Pendular nystagmus (HP:0012043)2.41895815
32Increased hepatocellular lipid droplets (HP:0006565)2.38969572
33Hepatocellular necrosis (HP:0001404)2.38358141
34Increased serum lactate (HP:0002151)2.37515728
35Encephalitis (HP:0002383)2.37090876
36Abnormality of T cell physiology (HP:0011840)2.36732550
37Hypothermia (HP:0002045)2.35196329
38Renal cortical cysts (HP:0000803)2.34413680
39Lactic acidosis (HP:0003128)2.34260912
40Medial flaring of the eyebrow (HP:0010747)2.33307018
41Abolished electroretinogram (ERG) (HP:0000550)2.31060220
42Stenosis of the external auditory canal (HP:0000402)2.27763178
43Prominent metopic ridge (HP:0005487)2.26078568
44Abnormality of the metopic suture (HP:0005556)2.25457659
45Pancreatic fibrosis (HP:0100732)2.24216079
46Oral leukoplakia (HP:0002745)2.23905210
47Molar tooth sign on MRI (HP:0002419)2.20497409
48Abnormality of midbrain morphology (HP:0002418)2.20497409
49Gait imbalance (HP:0002141)2.19580399
50Hepatic necrosis (HP:0002605)2.19464045
51Lissencephaly (HP:0001339)2.17025484
52Congenital primary aphakia (HP:0007707)2.16854828
53Abnormality of eosinophils (HP:0001879)2.16190193
54Acute hepatic failure (HP:0006554)2.15131470
55Abnormality of the alveolar ridges (HP:0006477)2.13472396
56Lipid accumulation in hepatocytes (HP:0006561)2.13079960
57Nephrogenic diabetes insipidus (HP:0009806)2.12018096
58Panhypogammaglobulinemia (HP:0003139)2.08931071
59Atrophy/Degeneration involving motor neurons (HP:0007373)2.07621098
60Progressive inability to walk (HP:0002505)2.06670771
61Abnormality of the anterior horn cell (HP:0006802)2.06392637
62Degeneration of anterior horn cells (HP:0002398)2.06392637
63Stomatitis (HP:0010280)2.06145028
64Retinal dysplasia (HP:0007973)2.05197006
65Abnormality of the prostate (HP:0008775)2.05126699
66Entropion (HP:0000621)2.05099472
67Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.04849443
68Limb dystonia (HP:0002451)2.04810954
69Optic disc pallor (HP:0000543)2.03804735
70Nephronophthisis (HP:0000090)2.02782750
71Combined immunodeficiency (HP:0005387)2.02291261
72Hypoplasia of the thymus (HP:0000778)2.00943635
73Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.00034982
74Abnormal protein N-linked glycosylation (HP:0012347)2.00034982
75Abnormal protein glycosylation (HP:0012346)2.00034982
76Abnormal glycosylation (HP:0012345)2.00034982
77Concave nail (HP:0001598)1.99538238
78Cerebral edema (HP:0002181)1.99512337
79Recurrent viral infections (HP:0004429)1.97195052
80Renal Fanconi syndrome (HP:0001994)1.96835058
81Hemiplegia (HP:0002301)1.96316135
82Attenuation of retinal blood vessels (HP:0007843)1.95669435
83Type I transferrin isoform profile (HP:0003642)1.94388773
84Hypoplasia of the uterus (HP:0000013)1.92826476
85Increased intramyocellular lipid droplets (HP:0012240)1.91117223
86Abnormality of serine family amino acid metabolism (HP:0010894)1.88286444
87Abnormality of glycine metabolism (HP:0010895)1.88286444
88Tongue fasciculations (HP:0001308)1.87045313
89Amyotrophic lateral sclerosis (HP:0007354)1.85651553
90Abnormal respiratory motile cilium morphology (HP:0005938)1.85592555
91Abnormal respiratory epithelium morphology (HP:0012253)1.85592555
92Pancytopenia (HP:0001876)1.85187225
93Hyperglycinemia (HP:0002154)1.84281383
94Hyperglycinuria (HP:0003108)1.82852546
95Palpebral edema (HP:0100540)1.82457081
96Agammaglobulinemia (HP:0004432)1.81028248
97Autoimmune hemolytic anemia (HP:0001890)1.80263369
98Progressive microcephaly (HP:0000253)1.79030814
99Fibular aplasia (HP:0002990)1.77957399
100Increased serum pyruvate (HP:0003542)1.77229613

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK8.51038075
2SRPK12.92944877
3MAP4K22.83410416
4TESK22.64674159
5KDR2.44556960
6VRK22.35845623
7BCR2.28223406
8BUB12.10139013
9BCKDK2.01591231
10ZAK2.00215635
11VRK11.98932543
12WNK41.87211452
13LIMK11.86237400
14TRIM281.85274800
15TLK11.77503671
16GRK71.66829127
17MAP4K11.64426946
18PINK11.63998199
19MAP2K71.62195548
20IKBKE1.50122357
21TSSK61.40786478
22ADRBK21.38763590
23ERBB31.31742091
24NEK11.30660010
25MAPKAPK31.29742685
26MAPK131.27023120
27TESK11.23412730
28ITK1.21498186
29PRKCQ1.18900326
30CCNB11.18803788
31MST41.16893742
32WNK31.16560873
33MAP3K141.14167748
34STK391.13967546
35DYRK21.13162458
36CSNK1G31.07861922
37TBK11.03774351
38GRK61.02105330
39RPS6KA40.98978398
40CSNK1G20.94957269
41RPS6KA50.90531798
42PHKG20.83812731
43PHKG10.83812731
44MAP3K40.81061399
45CSNK1A1L0.80724576
46AURKA0.76485917
47EIF2AK20.69568653
48CSNK1G10.66804612
49NUAK10.66213000
50GRK10.65964060
51INSRR0.64515738
52DYRK30.64425724
53SYK0.63595064
54TAF10.62921506
55LCK0.62010359
56MAP3K110.60227469
57WEE10.59896920
58IKBKB0.57844896
59NME10.57338824
60PAK30.54672175
61MAPKAPK50.54256331
62MARK10.54169540
63PNCK0.48829337
64ATR0.48504778
65PLK30.47398482
66TAOK30.46978221
67GRK50.45827597
68PLK20.45395194
69CAMK2G0.45171414
70DAPK10.44025345
71PRKCE0.43974787
72EIF2AK30.43273626
73TEC0.42782111
74CSK0.42278852
75CSNK1A10.39605593
76PLK10.39528559
77CDK190.38663922
78IGF1R0.38165321
79OXSR10.38064759
80STK100.37977352
81OBSCN0.37911526
82PRKCG0.34762550
83NEK60.33924741
84LYN0.33675369
85CAMK2A0.33005151
86NEK20.32257699
87PRKACA0.32037695
88PRKCI0.31801256
89MAP2K20.27268500
90FYN0.26352902
91TNK20.26289869
92CSNK2A10.26265633
93PAK60.25426174
94SIK20.24503871
95JAK30.24436781
96CHUK0.23324476
97PIK3CA0.22852987
98PBK0.22811369
99FLT30.22176214
100MAPK90.22060830

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.47081035
2Proteasome_Homo sapiens_hsa030503.83032153
3Antigen processing and presentation_Homo sapiens_hsa046123.12555264
4Graft-versus-host disease_Homo sapiens_hsa053323.04431208
5Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.71124081
6Oxidative phosphorylation_Homo sapiens_hsa001902.67558740
7Parkinsons disease_Homo sapiens_hsa050122.57639218
8RNA polymerase_Homo sapiens_hsa030202.33672912
9Protein export_Homo sapiens_hsa030602.21488010
10Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.19935431
11T cell receptor signaling pathway_Homo sapiens_hsa046601.83821840
12Allograft rejection_Homo sapiens_hsa053301.75883267
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.73539549
14Autoimmune thyroid disease_Homo sapiens_hsa053201.70134831
15Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.68841600
16Type I diabetes mellitus_Homo sapiens_hsa049401.50979677
17Spliceosome_Homo sapiens_hsa030401.49248880
18Huntingtons disease_Homo sapiens_hsa050161.46314001
19Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.44359875
20Sulfur relay system_Homo sapiens_hsa041221.42014000
21Rheumatoid arthritis_Homo sapiens_hsa053231.37454872
22alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.36525557
23Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.33844614
24Linoleic acid metabolism_Homo sapiens_hsa005911.32087145
25Alzheimers disease_Homo sapiens_hsa050101.32042815
26Mismatch repair_Homo sapiens_hsa034301.27651650
27Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.25635963
28Salmonella infection_Homo sapiens_hsa051321.23370339
29Regulation of autophagy_Homo sapiens_hsa041401.22886206
30Basal transcription factors_Homo sapiens_hsa030221.22323161
31Nitrogen metabolism_Homo sapiens_hsa009101.21918859
32* Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.19161521
33Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.18273596
34Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.12309273
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.08772674
36Phototransduction_Homo sapiens_hsa047441.07938487
37Butanoate metabolism_Homo sapiens_hsa006501.07454226
38Homologous recombination_Homo sapiens_hsa034401.07426948
39Taste transduction_Homo sapiens_hsa047421.04401894
40Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.01966752
41Systemic lupus erythematosus_Homo sapiens_hsa053221.01737986
42Selenocompound metabolism_Homo sapiens_hsa004501.01461345
43Hematopoietic cell lineage_Homo sapiens_hsa046401.01360114
44Nicotine addiction_Homo sapiens_hsa050330.97669905
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96770342
46Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.95779815
47Pyrimidine metabolism_Homo sapiens_hsa002400.95096160
48Alcoholism_Homo sapiens_hsa050340.93219606
49RNA degradation_Homo sapiens_hsa030180.92051184
50Nucleotide excision repair_Homo sapiens_hsa034200.91632605
51RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.90028258
52NF-kappa B signaling pathway_Homo sapiens_hsa040640.89158941
53Cardiac muscle contraction_Homo sapiens_hsa042600.88890167
54Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.88209518
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86292871
56Fanconi anemia pathway_Homo sapiens_hsa034600.85331067
57DNA replication_Homo sapiens_hsa030300.83432304
58Fatty acid elongation_Homo sapiens_hsa000620.81566670
59Base excision repair_Homo sapiens_hsa034100.80532627
60Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.80303027
61Shigellosis_Homo sapiens_hsa051310.80207651
62GABAergic synapse_Homo sapiens_hsa047270.77544696
63Morphine addiction_Homo sapiens_hsa050320.76962358
64RNA transport_Homo sapiens_hsa030130.71277009
65Peroxisome_Homo sapiens_hsa041460.69250019
66Propanoate metabolism_Homo sapiens_hsa006400.69142339
67Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.67754636
68Measles_Homo sapiens_hsa051620.66997483
69Cysteine and methionine metabolism_Homo sapiens_hsa002700.65791977
70Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.64289663
71* Biosynthesis of amino acids_Homo sapiens_hsa012300.61214114
72Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.60204760
73Caffeine metabolism_Homo sapiens_hsa002320.60029903
74Purine metabolism_Homo sapiens_hsa002300.57390416
75Folate biosynthesis_Homo sapiens_hsa007900.56411065
76Tryptophan metabolism_Homo sapiens_hsa003800.55980133
77Collecting duct acid secretion_Homo sapiens_hsa049660.55243824
78Intestinal immune network for IgA production_Homo sapiens_hsa046720.53558451
79Epstein-Barr virus infection_Homo sapiens_hsa051690.50518400
80Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.48395120
81Chemokine signaling pathway_Homo sapiens_hsa040620.48245795
82Steroid biosynthesis_Homo sapiens_hsa001000.47499209
83NOD-like receptor signaling pathway_Homo sapiens_hsa046210.46473492
84Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.46386351
85Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.45697083
86Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.45097920
87beta-Alanine metabolism_Homo sapiens_hsa004100.43654875
88Ribosome_Homo sapiens_hsa030100.43644003
89Olfactory transduction_Homo sapiens_hsa047400.43402173
90Amphetamine addiction_Homo sapiens_hsa050310.40805962
91Serotonergic synapse_Homo sapiens_hsa047260.39908457
92Sulfur metabolism_Homo sapiens_hsa009200.39286117
93Arachidonic acid metabolism_Homo sapiens_hsa005900.38764686
94Dopaminergic synapse_Homo sapiens_hsa047280.38325803
95Pentose and glucuronate interconversions_Homo sapiens_hsa000400.38224611
96Viral myocarditis_Homo sapiens_hsa054160.37876236
97Retinol metabolism_Homo sapiens_hsa008300.37837508
98* Metabolic pathways_Homo sapiens_hsa011000.36494274
99One carbon pool by folate_Homo sapiens_hsa006700.35149766
100Legionellosis_Homo sapiens_hsa051340.33906342

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